PROM1 (prominin 1) - Rat Genome Database

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Gene: PROM1 (prominin 1) Homo sapiens
Analyze
Symbol: PROM1
Name: prominin 1
RGD ID: 1345263
HGNC Page HGNC:9454
Description: Enables actinin binding activity and cadherin binding activity. Involved in several processes, including glomerular epithelial cell differentiation; photoreceptor cell maintenance; and positive regulation of nephron tubule epithelial cell differentiation. Located in several cellular components, including endoplasmic reticulum-Golgi intermediate compartment; extracellular exosome; and photoreceptor outer segment membrane. Implicated in cone-rod dystrophy 12; retinal macular dystrophy; and retinitis pigmentosa 41.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: AC133; AC133 antigen; antigen AC133; CD133; CORD12; hematopoietic stem cell antigen; hProminin; macular dystrophy, retinal 2; MCDR2; MSTP061; prominin-1; prominin-like 1; prominin-like protein 1; PROML1; Retinitis pigmentosa 41, Cone-rod dystrophy 12; RP41; Stargardt disease 4 (autosomal dominant); STGD4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38415,968,228 - 16,084,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl415,963,076 - 16,084,378 (-)EnsemblGRCh38hg38GRCh38
GRCh37415,969,851 - 16,085,646 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,578,955 - 15,686,664 (-)NCBINCBI36Build 36hg18NCBI36
Build 34415,646,125 - 15,753,835NCBI
Celera416,434,397 - 16,550,164 (-)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef415,319,438 - 15,435,190 (-)NCBIHuRef
CHM1_1415,967,639 - 16,083,574 (-)NCBICHM1_1
T2T-CHM13v2.0415,949,919 - 16,107,700 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(20S)-ginsenoside Rg3  (EXP)
(S)-naringenin  (EXP)
1,1-dichloroethene  (ISO)
1,2-dichloroethane  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,3,7,8-Tetrachlorodibenzofuran  (ISO)
2,4-dinitrotoluene  (ISO)
2-acetamidofluorene  (ISO)
2-butoxyethanol  (ISO)
3,5-diethoxycarbonyl-1,4-dihydrocollidine  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (EXP)
5-azacytidine  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (ISO)
actinomycin D  (EXP)
aflatoxin B1  (ISO)
Aflatoxin B2 alpha  (EXP)
ammonium chloride  (ISO)
Antrocin  (EXP)
apigenin  (EXP)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
auramine O  (EXP)
azathioprine  (EXP)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bexarotene  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
butane-2,3-dione  (EXP)
butyric acid  (EXP)
cadmium atom  (ISO)
cadmium dichloride  (ISO)
caffeine  (EXP)
carbon nanotube  (ISO)
carnosic acid  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
ciprofloxacin  (EXP)
cisplatin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
crizotinib  (EXP)
crocidolite asbestos  (ISO)
curcumin  (EXP)
cyclosporin A  (EXP,ISO)
daunorubicin  (ISO)
diallyl trisulfide  (EXP)
diarsenic trioxide  (EXP)
dibutyl phthalate  (ISO)
dichloroacetic acid  (EXP)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
eckol  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
ethyl methanesulfonate  (EXP)
fisetin  (EXP)
folic acid  (ISO)
furan  (ISO)
genistein  (ISO)
glycidol  (ISO)
inulin  (ISO)
irinotecan  (EXP)
L-methionine  (ISO)
lead diacetate  (ISO)
lupeol  (ISO)
melatonin  (EXP)
methamphetamine  (ISO)
methapyrilene  (EXP)
methoxychlor  (ISO)
methyl methanesulfonate  (EXP)
microcystin-LR  (ISO)
Muraglitazar  (ISO)
N-methyl-4-phenylpyridinium  (EXP)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (EXP)
oxaliplatin  (ISO)
paclitaxel  (EXP)
pentane-2,3-dione  (EXP)
perfluorooctane-1-sulfonic acid  (ISO)
phenethyl caffeate  (ISO)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (EXP,ISO)
pregnenolone 16alpha-carbonitrile  (ISO)
proanthocyanidin  (EXP)
progesterone  (EXP,ISO)
propiconazole  (ISO)
pyrazinecarboxamide  (ISO)
quercetin  (EXP)
ritodrine  (ISO)
rotenone  (EXP)
SB 431542  (EXP)
SCH 23390  (ISO)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP,ISO)
sodium fluoride  (ISO)
Soman  (ISO)
sulfadimethoxine  (ISO)
sunitinib  (EXP)
tamoxifen  (ISO)
Tesaglitazar  (ISO)
testosterone  (ISO)
tetrachloromethane  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
tributylstannane  (ISO)
Triptolide  (EXP)
tris(2-butoxyethyl) phosphate  (EXP)
troglitazone  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal choroid morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal foveal morphology  (IAGP)
Abnormal light- and dark-adapted electroretinogram  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of macular pigmentation  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of visual evoked potentials  (IAGP)
Agenesis of cerebellar vermis  (IAGP)
Aplasia/Hypoplasia of the macula  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Bull's eye maculopathy  (IAGP)
Central scotoma  (IAGP)
Childhood onset  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Dyschromatopsia  (IAGP)
Glaucoma  (IAGP)
Granular macular appearance  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Macular degeneration  (IAGP)
Macular dystrophy  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc pallor  (IAGP)
Paroxysmal involuntary eye movements  (IAGP)
Perifoveal ring of hyperautofluorescence  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Pigmentary retinopathy  (IAGP)
Posterior subcapsular cataract  (IAGP)
Progressive night blindness  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal dystrophy  (IAGP)
Retinal flecks  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Retinal thinning  (IAGP)
Rod-cone dystrophy  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Type II diabetes mellitus  (IAGP)
Undetectable electroretinogram  (IAGP)
Visual impairment  (IAGP)
Yellow/white lesions of the macula  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Hepatocyte-Specific Arid1a Deficiency Initiates Mouse Steatohepatitis and Hepatocellular Carcinoma. Fang JZ, etal., PLoS One. 2015 Nov 16;10(11):e0143042. doi: 10.1371/journal.pone.0143042. eCollection 2015.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
5. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
6. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
Additional References at PubMed
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PMID:21457403   PMID:21462307   PMID:21479688   PMID:21486962   PMID:21508381   PMID:21559522   PMID:21591261   PMID:21602936   PMID:21695188   PMID:21764578   PMID:21778785   PMID:21798073  
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PMID:21937449   PMID:21947321   PMID:21959795   PMID:21966538   PMID:21994122   PMID:22008114   PMID:22025269   PMID:22049795   PMID:22072879   PMID:22076958   PMID:22079466   PMID:22119814  
PMID:22123613   PMID:22130040   PMID:22130902   PMID:22140506   PMID:22156015   PMID:22157717   PMID:22178090   PMID:22199321   PMID:22231565   PMID:22236447   PMID:22246526   PMID:22246536  
PMID:22315171   PMID:22322379   PMID:22337994   PMID:22394107   PMID:22395309   PMID:22395973   PMID:22408058   PMID:22431923   PMID:22448662   PMID:22453233   PMID:22496204   PMID:22514116  
PMID:22529031   PMID:22571340   PMID:22614155   PMID:22623141   PMID:22652175   PMID:22664874   PMID:22668828   PMID:22739150   PMID:22740326   PMID:22748652   PMID:22782852   PMID:22830353  
PMID:22842095   PMID:22865455   PMID:22871210   PMID:22922842   PMID:22944295   PMID:22945648   PMID:22960282   PMID:22964035   PMID:22964855   PMID:23045288   PMID:23049880   PMID:23055022  
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PMID:32571264   PMID:32616888   PMID:32629392   PMID:32662250   PMID:32791518   PMID:32820593   PMID:32920463   PMID:32979173   PMID:32986345   PMID:33097678   PMID:33112567   PMID:33237511  
PMID:33243165   PMID:33517296   PMID:33720534   PMID:33764985   PMID:33899676   PMID:33961781   PMID:33994850   PMID:34008001   PMID:34092615   PMID:34157581   PMID:34341256   PMID:34517259  
PMID:34571550   PMID:34791507   PMID:34837909   PMID:35026215   PMID:35181408   PMID:35186145   PMID:35194895   PMID:35284915   PMID:35430343   PMID:35485315   PMID:35818212   PMID:35951719  
PMID:35975322   PMID:36077272   PMID:36193308   PMID:36215168   PMID:36617467   PMID:36768723   PMID:36930890   PMID:37487255   PMID:37922108   PMID:37956677   PMID:37975849   PMID:38072963  
PMID:38279469   PMID:38285791   PMID:38365731  


Genomics

Comparative Map Data
PROM1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh38415,968,228 - 16,084,023 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl415,963,076 - 16,084,378 (-)EnsemblGRCh38hg38GRCh38
GRCh37415,969,851 - 16,085,646 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 36415,578,955 - 15,686,664 (-)NCBINCBI36Build 36hg18NCBI36
Build 34415,646,125 - 15,753,835NCBI
Celera416,434,397 - 16,550,164 (-)NCBICelera
Cytogenetic Map4p15.32NCBI
HuRef415,319,438 - 15,435,190 (-)NCBIHuRef
CHM1_1415,967,639 - 16,083,574 (-)NCBICHM1_1
T2T-CHM13v2.0415,949,919 - 16,107,700 (-)NCBIT2T-CHM13v2.0
Prom1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39544,150,963 - 44,260,850 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl544,150,962 - 44,259,374 (-)EnsemblGRCm39 Ensembl
GRCm38543,993,621 - 44,102,047 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl543,993,620 - 44,102,032 (-)EnsemblGRCm38mm10GRCm38
MGSCv37544,384,861 - 44,492,975 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36544,281,870 - 44,389,929 (-)NCBIMGSCv36mm8
Celera541,422,565 - 41,530,564 (-)NCBICelera
Cytogenetic Map5B3NCBI
cM Map523.97NCBI
Prom1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81471,202,303 - 71,307,008 (+)NCBIGRCr8
mRatBN7.21466,989,545 - 67,094,534 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1466,990,160 - 67,094,527 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1471,398,422 - 71,501,438 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01472,670,309 - 72,774,669 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01469,108,846 - 69,211,863 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01471,532,321 - 71,637,400 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1471,533,063 - 71,637,417 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01471,573,130 - 71,668,097 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41472,122,986 - 72,230,453 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11472,125,409 - 72,232,843 (+)NCBI
Celera1465,949,815 - 66,052,606 (+)NCBICelera
Cytogenetic Map14q21NCBI
Prom1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554807,961,389 - 8,059,589 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554807,955,501 - 8,059,537 (+)NCBIChiLan1.0ChiLan1.0
PROM1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2316,246,553 - 16,390,045 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan1416,444,172 - 16,587,747 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v0410,405,299 - 10,519,518 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.1415,702,155 - 15,816,070 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl415,702,159 - 15,815,454 (-)Ensemblpanpan1.1panPan2
PROM1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1364,229,487 - 64,362,346 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl364,260,685 - 64,382,009 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha366,778,870 - 66,880,110 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0364,707,547 - 64,840,616 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl364,732,612 - 64,855,496 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1364,228,808 - 64,330,214 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0364,432,846 - 64,534,046 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0364,793,321 - 64,894,543 (+)NCBIUU_Cfam_GSD_1.0
Prom1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440528558,176,590 - 58,315,536 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493647711,878,012 - 12,018,177 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493647711,878,261 - 12,017,228 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PROM1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl811,215,663 - 11,317,312 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1811,215,659 - 11,331,442 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2810,866,626 - 10,987,214 (-)NCBISscrofa10.2Sscrofa10.2susScr3
PROM1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.12734,093,699 - 34,243,630 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl2734,129,532 - 34,243,778 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604780,860,464 - 80,977,347 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prom1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475515,771,286 - 15,886,348 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475515,765,162 - 15,886,023 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PROM1
778 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_006017.3(PROM1):c.1841del (p.Gly614fs) deletion Retinitis pigmentosa 41 [RCV000005958] Chr4:15992318 [GRCh38]
Chr4:15993941 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1726C>T (p.Gln576Ter) single nucleotide variant Retinal dystrophy [RCV000210292]|Retinitis pigmentosa 41 [RCV000005959]|Retinitis pigmentosa [RCV000504792] Chr4:15994028 [GRCh38]
Chr4:15995651 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1117C>T (p.Arg373Cys) single nucleotide variant Cone-rod dystrophy 12 [RCV000005962]|Macular dystrophy [RCV000787649]|Retinal dystrophy [RCV000504765]|Retinal macular dystrophy type 2 [RCV000005961]|Retinitis pigmentosa [RCV001723543]|Stargardt disease 4 [RCV000005960]|Stargardt disease 4 [RCV002496275]|Stargardt disease [RCV000787648]|not provided [RCV000479499] Chr4:16013299 [GRCh38]
Chr4:16014922 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-28066309)x1 copy number loss See cases [RCV000051642] Chr4:72555..28066309 [GRCh38]
Chr4:72447..28067931 [GRCh37]
Chr4:62447..27677029 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14061129-20121834)x1 copy number loss See cases [RCV000051220] Chr4:14061129..20121834 [GRCh38]
Chr4:14062753..20123457 [GRCh37]
Chr4:13671851..19732555 [NCBI36]
Chr4:4p15.33-15.31
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:51519-26519788)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051752]|See cases [RCV000051752] Chr4:51519..26519788 [GRCh38]
Chr4:51413..26521410 [GRCh37]
Chr4:41413..26130508 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.1(chr4:72555-33130620)x3 copy number gain See cases [RCV000051753] Chr4:72555..33130620 [GRCh38]
Chr4:72447..33132242 [GRCh37]
Chr4:62447..32808637 [NCBI36]
Chr4:4p16.3-15.1
pathogenic
GRCh38/hg38 4p16.3-14(chr4:85149-38700366)x3 copy number gain See cases [RCV000051757] Chr4:85149..38700366 [GRCh38]
Chr4:85040..38701987 [GRCh37]
Chr4:75040..38378382 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p15.33-15.31(chr4:14659764-18274924)x3 copy number gain See cases [RCV000051769] Chr4:14659764..18274924 [GRCh38]
Chr4:14661388..18276547 [GRCh37]
Chr4:14270486..17885645 [NCBI36]
Chr4:4p15.33-15.31
pathogenic
GRCh38/hg38 4p16.3-15.2(chr4:85149-22450018)x3 copy number gain See cases [RCV000051755] Chr4:85149..22450018 [GRCh38]
Chr4:85040..22451641 [GRCh37]
Chr4:75040..22060739 [NCBI36]
Chr4:4p16.3-15.2
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:85149-17486742)x1 copy number loss See cases [RCV000051679] Chr4:85149..17486742 [GRCh38]
Chr4:85040..17488365 [GRCh37]
Chr4:75040..17097463 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) single nucleotide variant Cone-rod dystrophy 12 [RCV000341369]|Retinal macular dystrophy type 2 [RCV000398024]|Retinitis pigmentosa [RCV000306230]|Stargardt disease 4 [RCV000347121]|not provided [RCV001515324]|not specified [RCV000173395] Chr4:16075852 [GRCh38]
Chr4:16077475 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.2(PROM1):c.1164C>T (p.Ser388=) single nucleotide variant Malignant melanoma [RCV000066309] Chr4:16009086 [GRCh38]
Chr4:16010709 [GRCh37]
Chr4:15619807 [NCBI36]
Chr4:4p15.32
not provided
NM_006017.2(PROM1):c.1163C>T (p.Ser388Phe) single nucleotide variant Malignant melanoma [RCV000066310] Chr4:16009087 [GRCh38]
Chr4:16010710 [GRCh37]
Chr4:15619808 [NCBI36]
Chr4:4p15.32
not provided
NM_006017.2(PROM1):c.51C>T (p.Ser17=) single nucleotide variant Malignant melanoma [RCV000066312] Chr4:16075856 [GRCh38]
Chr4:16077479 [GRCh37]
Chr4:15686577 [NCBI36]
Chr4:4p15.32
not provided
NM_006017.3(PROM1):c.1003-6T>G single nucleotide variant not provided [RCV000081345] Chr4:16016246 [GRCh38]
Chr4:16017869 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) single nucleotide variant Cone-rod dystrophy 12 [RCV000351307]|Retinal macular dystrophy type 2 [RCV000296436]|Retinitis pigmentosa [RCV000381327]|Stargardt disease 4 [RCV000326660]|not provided [RCV000892544]|not specified [RCV000081346] Chr4:15991228 [GRCh38]
Chr4:15992851 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.2281-6C>G single nucleotide variant Cone-rod dystrophy 12 [RCV000346832]|Retinal macular dystrophy type 2 [RCV000322412]|Retinitis pigmentosa 41 [RCV001789128]|Retinitis pigmentosa [RCV000377008]|Stargardt disease 4 [RCV000291850]|not provided [RCV000826342]|not specified [RCV000081347] Chr4:15984361 [GRCh38]
Chr4:15985984 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.228G>A (p.Leu76=) single nucleotide variant Cone-rod dystrophy 12 [RCV000362013]|Retinal macular dystrophy type 2 [RCV000337715]|Retinitis pigmentosa [RCV000399220]|Stargardt disease 4 [RCV000302705]|not provided [RCV001518003]|not specified [RCV000081348] Chr4:16038994 [GRCh38]
Chr4:16040617 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.2320G>A (p.Ala774Thr) single nucleotide variant not provided [RCV000081349] Chr4:15984316 [GRCh38]
Chr4:15985939 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2374-5dup duplication Cone-Rod Dystrophy, Dominant [RCV000304729]|Macular dystrophy, retinal [RCV000310545]|Retinitis Pigmentosa, Recessive [RCV000264787]|Stargardt Disease, Dominant [RCV000359498]|not provided [RCV000836759]|not specified [RCV000081350] Chr4:15980540..15980541 [GRCh38]
Chr4:15982163..15982164 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.2374-6T>C single nucleotide variant Cone-rod dystrophy 12 [RCV000281916]|Retinal macular dystrophy type 2 [RCV000385618]|Retinitis pigmentosa 41 [RCV001789129]|Retinitis pigmentosa [RCV000276106]|Stargardt disease 4 [RCV000331161]|not provided [RCV000836688]|not specified [RCV000081351] Chr4:15980543 [GRCh38]
Chr4:15982166 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2374-6delinsCC indel not provided [RCV000081352] Chr4:15980543 [GRCh38]
Chr4:15982166 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1557C>A (p.Tyr519Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV002288584]|Retinal dystrophy [RCV000504778]|not provided [RCV000086959] Chr4:16000517 [GRCh38]
Chr4:16002140 [GRCh37]
Chr4:4p15.32
pathogenic|not provided
NM_006017.3(PROM1):c.1768-5C>T single nucleotide variant Cone-rod dystrophy 12 [RCV000330367]|Retinal macular dystrophy type 2 [RCV000375607]|Retinitis pigmentosa [RCV000336295]|Stargardt disease 4 [RCV000281202]|not provided [RCV000086960]|not specified [RCV000252795] Chr4:15992396 [GRCh38]
Chr4:15994019 [GRCh37]
Chr4:4p15.32
benign|likely benign|not provided
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257791]|Cone-rod dystrophy 12 [RCV000299552]|Retinal macular dystrophy type 2 [RCV000348573]|Retinitis pigmentosa 41 [RCV000987426]|Retinitis pigmentosa [RCV000390528]|Stargardt disease 4 [RCV000356757]|Stargardt disease 4 [RCV000765766]|not provided [RCV000171375] Chr4:16025218 [GRCh38]
Chr4:16026841 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.1863T>G (p.Phe621Leu) single nucleotide variant not provided [RCV002001781] Chr4:15992296 [GRCh38]
Chr4:15993919 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1177_1178del (p.Ile393fs) microsatellite Retinal dystrophy [RCV000504956]|Retinitis pigmentosa 41 [RCV000190617]|not provided [RCV001388264] Chr4:16009072..16009073 [GRCh38]
Chr4:16010695..16010696 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1077+6C>G single nucleotide variant not provided [RCV000906134]|not specified [RCV000180629] Chr4:16016160 [GRCh38]
Chr4:16017783 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) single nucleotide variant Inborn genetic diseases [RCV002516583]|not provided [RCV000173393] Chr4:16075773 [GRCh38]
Chr4:16077396 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) single nucleotide variant Inborn genetic diseases [RCV002517664]|not provided [RCV000173394] Chr4:16075804 [GRCh38]
Chr4:16077427 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.96G>T (p.Trp32Cys) single nucleotide variant not provided [RCV000173396] Chr4:16075811 [GRCh38]
Chr4:16077434 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1495A>G (p.Ile499Val) single nucleotide variant not provided [RCV001303023] Chr4:16000579 [GRCh38]
Chr4:16002202 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.323G>A (p.Gly108Glu) single nucleotide variant not provided [RCV001303713] Chr4:16033490 [GRCh38]
Chr4:16035113 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) single nucleotide variant Cone-rod dystrophy 12 [RCV001147666]|Retinal macular dystrophy type 2 [RCV001147668]|Retinitis pigmentosa 41 [RCV001535742]|Retinitis pigmentosa [RCV001147667]|Stargardt disease 4 [RCV001151003]|not provided [RCV000724359] Chr4:16006647 [GRCh38]
Chr4:16008270 [GRCh37]
Chr4:4p15.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) single nucleotide variant Inborn genetic diseases [RCV002516634]|not provided [RCV000174559] Chr4:16000605 [GRCh38]
Chr4:16002228 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
GRCh38/hg38 4p16.3-14(chr4:72555-39477144)x3 copy number gain See cases [RCV000133677] Chr4:72555..39477144 [GRCh38]
Chr4:72447..39478764 [GRCh37]
Chr4:62447..39155159 [NCBI36]
Chr4:4p16.3-14
pathogenic
GRCh38/hg38 4p16.3-15.32(chr4:72555-17278013)x1 copy number loss See cases [RCV000135657] Chr4:72555..17278013 [GRCh38]
Chr4:72447..17279636 [GRCh37]
Chr4:62447..16888734 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:51519-17798196)x3 copy number gain See cases [RCV000137071] Chr4:51519..17798196 [GRCh38]
Chr4:51413..17799819 [GRCh37]
Chr4:41413..17408917 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3 copy number gain See cases [RCV000137261] Chr4:36424..47491595 [GRCh38]
Chr4:36424..47493612 [GRCh37]
Chr4:26424..47188369 [NCBI36]
Chr4:4p16.3-12
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:72555-21022414)x3 copy number gain See cases [RCV000138305] Chr4:72555..21022414 [GRCh38]
Chr4:72447..21024037 [GRCh37]
Chr4:62447..20633135 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
GRCh38/hg38 4p15.32(chr4:15796371-16062609)x1 copy number loss See cases [RCV000139323] Chr4:15796371..16062609 [GRCh38]
Chr4:15797994..16064232 [GRCh37]
Chr4:15407092..15673330 [NCBI36]
Chr4:4p15.32
likely benign
GRCh38/hg38 4p15.32(chr4:15868863-16925081)x1 copy number loss See cases [RCV000140878] Chr4:15868863..16925081 [GRCh38]
Chr4:15870486..16926704 [GRCh37]
Chr4:15479584..16535802 [NCBI36]
Chr4:4p15.32
uncertain significance
GRCh38/hg38 4p16.3-15.32(chr4:4426403-17460549)x1 copy number loss See cases [RCV000141502] Chr4:4426403..17460549 [GRCh38]
Chr4:4428130..17462172 [GRCh37]
Chr4:4479031..17071270 [NCBI36]
Chr4:4p16.3-15.32
pathogenic
GRCh38/hg38 4p16.3-15.31(chr4:68453-20385608)x1 copy number loss See cases [RCV000143713] Chr4:68453..20385608 [GRCh38]
Chr4:68345..20387231 [GRCh37]
Chr4:58345..19996329 [NCBI36]
Chr4:4p16.3-15.31
pathogenic
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) single nucleotide variant Cone-rod dystrophy 12 [RCV001150904]|Retinal macular dystrophy type 2 [RCV001144801]|Retinitis pigmentosa [RCV001150902]|Stargardt disease 4 [RCV001150903]|not provided [RCV000757689]|not specified [RCV000153771] Chr4:16000577 [GRCh38]
Chr4:16002200 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1090C>T (p.Leu364Phe) single nucleotide variant not provided [RCV000153772] Chr4:16013326 [GRCh38]
Chr4:16014949 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.12:g.16090045C>A single nucleotide variant Lung cancer [RCV000094251] Chr4:16090045 [GRCh38]
Chr4:16091668 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.879C>T (p.Ser293=) single nucleotide variant not provided [RCV000180293] Chr4:16018446 [GRCh38]
Chr4:16020069 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.1030A>G (p.Asn344Asp) single nucleotide variant not provided [RCV000180628] Chr4:16016213 [GRCh38]
Chr4:16017836 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2281-5C>G single nucleotide variant Cone-rod dystrophy 12 [RCV000285875]|Retinal macular dystrophy type 2 [RCV000260970]|Retinitis pigmentosa [RCV000316222]|Stargardt disease 4 [RCV000380196]|not provided [RCV001247620] Chr4:15984360 [GRCh38]
Chr4:15985983 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.-37C>T single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000324335]|Macular dystrophy, retinal [RCV000264638]|Retinitis Pigmentosa, Recessive [RCV000378966]|Stargardt Disease, Dominant [RCV000377929] Chr4:16075943 [GRCh38]
Chr4:16077566 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2578A>G (p.Thr860Ala) single nucleotide variant Cone-rod dystrophy 12 [RCV000318837]|Retinal macular dystrophy type 2 [RCV000353914]|Retinitis pigmentosa [RCV000375741]|Stargardt disease 4 [RCV000261335]|not provided [RCV001861228] Chr4:15979399 [GRCh38]
Chr4:15981022 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1578+9G>C single nucleotide variant Cone-rod dystrophy 12 [RCV000353950]|Retinal macular dystrophy type 2 [RCV000261455]|Retinitis pigmentosa [RCV000262727]|Stargardt disease 4 [RCV000320164]|not provided [RCV002057918] Chr4:16000487 [GRCh38]
Chr4:16002110 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.-168G>A single nucleotide variant Cone-rod dystrophy 12 [RCV000296943]|Retinal macular dystrophy type 2 [RCV000356355]|Retinitis pigmentosa [RCV000401292]|Stargardt disease 4 [RCV000261622] Chr4:16076074 [GRCh38]
Chr4:16077697 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1279T>A (p.Leu427Met) single nucleotide variant Cone-rod dystrophy 12 [RCV000324262]|Retinal macular dystrophy type 2 [RCV000265119]|Retinitis pigmentosa [RCV000358025]|Stargardt disease 4 [RCV000266734]|not provided [RCV001241226] Chr4:16008971 [GRCh38]
Chr4:16010594 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.718G>A (p.Gly240Arg) single nucleotide variant Cone-rod dystrophy 12 [RCV000311752]|Retinal macular dystrophy type 2 [RCV000262406]|Retinitis pigmentosa [RCV000277700]|Stargardt disease 4 [RCV000368672]|not provided [RCV001350400] Chr4:16023392 [GRCh38]
Chr4:16025015 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.-25T>A single nucleotide variant Cone-rod dystrophy 12 [RCV000354399]|Retinal macular dystrophy type 2 [RCV000313534]|Retinitis pigmentosa [RCV000319521]|Stargardt disease 4 [RCV000259686] Chr4:16075931 [GRCh38]
Chr4:16077554 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.2077-521A>G single nucleotide variant Cone-rod dystrophy 2 [RCV000186496]|Retinal dystrophy [RCV001074060] Chr4:15988237 [GRCh38]
Chr4:15989860 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) single nucleotide variant Cone-rod dystrophy 12 [RCV000361771]|Retinal macular dystrophy type 2 [RCV000365161]|Retinitis pigmentosa [RCV000303463]|Stargardt disease 4 [RCV000400435]|not provided [RCV000950665]|not specified [RCV000313919] Chr4:16018457 [GRCh38]
Chr4:16020080 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) single nucleotide variant Cone-rod dystrophy 12 [RCV000342856]|Retinal macular dystrophy type 2 [RCV000390893]|Retinitis pigmentosa [RCV000303280]|Stargardt disease 4 [RCV000297319]|not provided [RCV000356389] Chr4:15991277 [GRCh38]
Chr4:15992900 [GRCh37]
Chr4:4p15.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) single nucleotide variant Cone-rod dystrophy 12 [RCV000390492]|Retinal macular dystrophy type 2 [RCV000401506]|Retinitis pigmentosa [RCV000352868]|Stargardt disease 4 [RCV000288468]|not provided [RCV000386501] Chr4:15985769 [GRCh38]
Chr4:15987392 [GRCh37]
Chr4:4p15.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 4p16.3-15.31(chr4:44020-19796182)x1 copy number loss See cases [RCV000203431] Chr4:44020..19796182 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_006017.3(PROM1):c.1697del (p.Asn566fs) deletion Retinal dystrophy [RCV000225407] Chr4:15994057 [GRCh38]
Chr4:15995680 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2309del (p.Pro770fs) deletion Cone-rod dystrophy 12 [RCV001542528]|Retinal dystrophy [RCV000225433] Chr4:15984327 [GRCh38]
Chr4:15985950 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.1141+1G>A single nucleotide variant Retinal dystrophy [RCV000225496] Chr4:16013274 [GRCh38]
Chr4:16014897 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1141+5G>C single nucleotide variant Retinal dystrophy [RCV000225558] Chr4:16013270 [GRCh38]
Chr4:16014893 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.694+4A>T single nucleotide variant Retinal dystrophy [RCV000225443] Chr4:16024291 [GRCh38]
Chr4:16025914 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1632G>T (p.Gly544=) single nucleotide variant Retinal dystrophy [RCV000225631]|Stargardt disease 4 [RCV000765765]|not provided [RCV000488414] Chr4:15998435 [GRCh38]
Chr4:16000058 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1579-1G>C single nucleotide variant Retinal dystrophy [RCV000225654]|not provided [RCV001388263] Chr4:15998489 [GRCh38]
Chr4:16000112 [GRCh37]
Chr4:4p15.32
pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.694+1G>A single nucleotide variant Retinal dystrophy [RCV000225617] Chr4:16024294 [GRCh38]
Chr4:16025917 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.914C>T (p.Pro305Leu) single nucleotide variant not provided [RCV001056391]|not specified [RCV000239347] Chr4:16018411 [GRCh38]
Chr4:16020034 [GRCh37]
Chr4:4p15.32
pathogenic|likely benign|uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:71552-29006745)x1 copy number loss See cases [RCV000240003] Chr4:71552..29006745 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
GRCh37/hg19 4p16.1-15.31(chr4:6447048-20490737)x3 copy number gain See cases [RCV000240007] Chr4:6447048..20490737 [GRCh37]
Chr4:4p16.1-15.31
pathogenic
NM_006017.3(PROM1):c.303+6G>A single nucleotide variant Cone-rod dystrophy 12 [RCV000329200]|Retinal macular dystrophy type 2 [RCV000271856]|Retinitis pigmentosa 41 [RCV001789282]|Retinitis pigmentosa [RCV000321055]|Stargardt disease 4 [RCV000359497]|not provided [RCV000836050]|not specified [RCV000253413] Chr4:16035729 [GRCh38]
Chr4:16037352 [GRCh37]
Chr4:4p15.32
benign
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV000449078] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006017.3(PROM1):c.1576C>T (p.Arg526Trp) single nucleotide variant Cone-rod dystrophy 12 [RCV000380476]|Retinal macular dystrophy type 2 [RCV000322364]|Retinitis pigmentosa [RCV000283728]|Stargardt disease 4 [RCV000323535]|not provided [RCV000594499] Chr4:16000498 [GRCh38]
Chr4:16002121 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2364C>T (p.Ile788=) single nucleotide variant Cone-rod dystrophy 12 [RCV000399730]|Retinal macular dystrophy type 2 [RCV000283949]|Retinitis pigmentosa [RCV000399383]|Stargardt disease 4 [RCV000339031]|not provided [RCV001442000] Chr4:15984272 [GRCh38]
Chr4:15985895 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.*1078A>G single nucleotide variant Cone-rod dystrophy 12 [RCV000343278]|Retinal macular dystrophy type 2 [RCV000399307]|Retinitis pigmentosa [RCV000337375]|Stargardt disease 4 [RCV000279953] Chr4:15968315 [GRCh38]
Chr4:15969938 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1954T>G (p.Tyr652Asp) single nucleotide variant Cone-rod dystrophy 12 [RCV000336904]|Retinal macular dystrophy type 2 [RCV000401671]|Retinitis pigmentosa [RCV000281988]|Stargardt disease 4 [RCV000385701] Chr4:15991251 [GRCh38]
Chr4:15992874 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.963G>T (p.Leu321Phe) single nucleotide variant Cone-rod dystrophy 12 [RCV000399717]|Retinal macular dystrophy type 2 [RCV000335053]|Retinitis pigmentosa [RCV000304480]|Stargardt disease 4 [RCV000282344]|not provided [RCV002057919] Chr4:16018362 [GRCh38]
Chr4:16019985 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.556C>T (p.Arg186Trp) single nucleotide variant Cone-rod dystrophy 12 [RCV000268102]|Retinal macular dystrophy type 2 [RCV000360430]|Retinitis pigmentosa [RCV000298692]|Stargardt disease 4 [RCV000390262]|not provided [RCV001861231] Chr4:16025266 [GRCh38]
Chr4:16026889 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1209_1229del (p.Gln403_Ser410delinsHis) deletion Retinal dystrophy [RCV001075616]|not provided [RCV000487614] Chr4:16009021..16009041 [GRCh38]
Chr4:16010644..16010664 [GRCh37]
Chr4:4p15.32
likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.155T>C (p.Ile52Thr) single nucleotide variant Cone-rod dystrophy 12 [RCV000273932]|Retinal macular dystrophy type 2 [RCV000333734]|Retinitis pigmentosa [RCV000327985]|Stargardt disease 4 [RCV000368597]|not provided [RCV001850847] Chr4:16075752 [GRCh38]
Chr4:16077375 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2284A>G (p.Ser762Gly) single nucleotide variant Cone-rod dystrophy 12 [RCV000355970]|Retinal macular dystrophy type 2 [RCV000319916]|Retinitis pigmentosa [RCV000274073]|Stargardt disease 4 [RCV000368747]|not provided [RCV000839749] Chr4:15984352 [GRCh38]
Chr4:15985975 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1983+14G>A single nucleotide variant Cone-rod dystrophy 12 [RCV000324663]|Retinal macular dystrophy type 2 [RCV000355042]|Retinitis pigmentosa [RCV000360716]|Stargardt disease 4 [RCV000260205]|not provided [RCV001511591]|not specified [RCV000244142] Chr4:15991208 [GRCh38]
Chr4:15992831 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.678G>A (p.Ala226=) single nucleotide variant Cone-rod dystrophy 12 [RCV000345958]|Retinal macular dystrophy type 2 [RCV000384160]|Retinitis pigmentosa [RCV000376482]|Stargardt disease 4 [RCV000283971]|not provided [RCV000912093] Chr4:16024311 [GRCh38]
Chr4:16025934 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.2551G>A (p.Val851Ile) single nucleotide variant Cone-rod dystrophy 12 [RCV000388672]|Retinal macular dystrophy type 2 [RCV000296764]|Retinitis pigmentosa [RCV000331908]|Stargardt disease 4 [RCV000274437]|not provided [RCV001301011] Chr4:15979426 [GRCh38]
Chr4:15981049 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.792G>A (p.Lys264=) single nucleotide variant Cone-rod dystrophy 12 [RCV000317930]|Retinal macular dystrophy type 2 [RCV000386341]|Retinitis pigmentosa [RCV000334145]|Stargardt disease 4 [RCV000274554] Chr4:16018533 [GRCh38]
Chr4:16020156 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
GRCh37/hg19 4p16.3-11(chr4:12440-49064044)x3 copy number gain See cases [RCV000240562] Chr4:12440..49064044 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006017.3(PROM1):c.1454+15CT[2] microsatellite not provided [RCV001519118]|not specified [RCV000244489] Chr4:16006518..16006519 [GRCh38]
Chr4:16008141..16008142 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.15C>T (p.Leu5=) single nucleotide variant Cone-rod dystrophy 12 [RCV000312520]|Retinal macular dystrophy type 2 [RCV000367292]|Retinitis pigmentosa [RCV000398887]|Stargardt disease 4 [RCV000277416]|not provided [RCV001512766]|not specified [RCV000249658] Chr4:16075892 [GRCh38]
Chr4:16077515 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.*1052G>A single nucleotide variant Cone-rod dystrophy 12 [RCV000328709]|Retinal macular dystrophy type 2 [RCV000306689]|Retinitis pigmentosa [RCV000363732]|Stargardt disease 4 [RCV000271338] Chr4:15968341 [GRCh38]
Chr4:15969964 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1982T>C (p.Leu661Ser) single nucleotide variant Cone-rod dystrophy 12 [RCV000265916]|Retinal macular dystrophy type 2 [RCV000384959]|Retinitis pigmentosa [RCV000271855]|Stargardt disease 4 [RCV000320991]|not provided [RCV001225542] Chr4:15991223 [GRCh38]
Chr4:15992846 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.786G>A (p.Ala262=) single nucleotide variant Cone-rod dystrophy 12 [RCV000279196]|Retinal macular dystrophy type 2 [RCV000379416]|Retinitis pigmentosa [RCV000336486]|Stargardt disease 4 [RCV000375986]|not provided [RCV000836779]|not specified [RCV000250373] Chr4:16018539 [GRCh38]
Chr4:16020162 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.129C>T (p.Thr43=) single nucleotide variant Cone-rod dystrophy 12 [RCV000388410]|Retinal macular dystrophy type 2 [RCV000375651]|Retinitis pigmentosa [RCV000279950]|Stargardt disease 4 [RCV000316444]|not provided [RCV001509696]|not specified [RCV000252686] Chr4:16075778 [GRCh38]
Chr4:16077401 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.2281-20_2281-11del deletion Cone-rod dystrophy 12 [RCV000239774]|Cone-rod dystrophy [RCV002267734] Chr4:15984366..15984375 [GRCh38]
Chr4:15985989..15985998 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV000240342]|Cone-rod dystrophy [RCV002267733]|Stargardt disease 4 [RCV002247690]|not provided [RCV001390399] Chr4:16009093 [GRCh38]
Chr4:16010716 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1911+14G>A single nucleotide variant Cone-rod dystrophy 12 [RCV000357535]|Retinal macular dystrophy type 2 [RCV000309053]|Retinitis pigmentosa [RCV000363702]|Stargardt disease 4 [RCV000272696]|not provided [RCV001513432] Chr4:15992234 [GRCh38]
Chr4:15993857 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.717C>T (p.Gly239=) single nucleotide variant Cone-rod dystrophy 12 [RCV000324190]|Retinal macular dystrophy type 2 [RCV000266664]|Retinitis pigmentosa [RCV000315947]|Stargardt disease 4 [RCV000372846]|not provided [RCV001454692] Chr4:16023393 [GRCh38]
Chr4:16025016 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.*84del deletion Cone-Rod Dystrophy, Dominant [RCV000302181]|Macular dystrophy, retinal [RCV000266972]|Retinitis Pigmentosa, Recessive [RCV000359246]|Stargardt Disease, Dominant [RCV000305762] Chr4:15969309 [GRCh38]
Chr4:15970932 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.843C>T (p.His281=) single nucleotide variant Cone-rod dystrophy 12 [RCV000276686]|Retinal macular dystrophy type 2 [RCV000307126]|Retinitis pigmentosa [RCV000273099]|Stargardt disease 4 [RCV000364245]|not provided [RCV002057920] Chr4:16018482 [GRCh38]
Chr4:16020105 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.181A>G (p.Ile61Val) single nucleotide variant Cone-rod dystrophy 12 [RCV000273204]|Retinal macular dystrophy type 2 [RCV000308324]|Retinitis pigmentosa [RCV000400360]|Stargardt disease 4 [RCV000363045]|not provided [RCV001439949] Chr4:16075726 [GRCh38]
Chr4:16077349 [GRCh37]
Chr4:4p15.32
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.*684C>T single nucleotide variant Cone-rod dystrophy 12 [RCV000316805]|Retinal macular dystrophy type 2 [RCV000278098]|Retinitis pigmentosa [RCV000373870]|Stargardt disease 4 [RCV000281713] Chr4:15968709 [GRCh38]
Chr4:15970332 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1579-6T>C single nucleotide variant Cone-rod dystrophy 12 [RCV000369060]|Retinal macular dystrophy type 2 [RCV000277946]|Retinitis pigmentosa [RCV000314370]|Stargardt disease 4 [RCV000363164]|not provided [RCV000956181] Chr4:15998494 [GRCh38]
Chr4:16000117 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.276+15G>T single nucleotide variant Cone-rod dystrophy 12 [RCV000278099]|Retinal macular dystrophy type 2 [RCV000295776]|Retinitis pigmentosa [RCV000394477]|Stargardt disease 4 [RCV000350668] Chr4:16038931 [GRCh38]
Chr4:16040554 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2211+7C>T single nucleotide variant Cone-rod dystrophy 12 [RCV000391793]|Retinal macular dystrophy type 2 [RCV000366791]|Retinitis pigmentosa [RCV000300221]|Stargardt disease 4 [RCV000312096]|not provided [RCV001455863] Chr4:15985950 [GRCh38]
Chr4:15987573 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.-148G>A single nucleotide variant Cone-rod dystrophy 12 [RCV000314617]|Retinal macular dystrophy type 2 [RCV000396125]|Retinitis pigmentosa [RCV000350732]|Stargardt disease 4 [RCV000350327] Chr4:16076054 [GRCh38]
Chr4:16077677 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1683-3C>T single nucleotide variant Cone-rod dystrophy 12 [RCV000302494]|Retinal macular dystrophy type 2 [RCV000398666]|Retinitis pigmentosa [RCV000348076]|Stargardt disease 4 [RCV000308385]|not provided [RCV000886518] Chr4:15994074 [GRCh38]
Chr4:15995697 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.631-14T>C single nucleotide variant Cone-rod dystrophy 12 [RCV000314928]|Retinal macular dystrophy type 2 [RCV000287975]|Retinitis pigmentosa [RCV000396849]|Stargardt disease 4 [RCV000345306]|Stargardt disease 4 [RCV002502339]|not provided [RCV001518834] Chr4:16024372 [GRCh38]
Chr4:16025995 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.277-15C>T single nucleotide variant Cone-rod dystrophy 12 [RCV000332880]|Retinal macular dystrophy type 2 [RCV000381583]|Retinitis pigmentosa [RCV000389815]|Stargardt disease 4 [RCV000289511]|not provided [RCV002057921] Chr4:16035776 [GRCh38]
Chr4:16037399 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2508G>A (p.Met836Ile) single nucleotide variant Cone-rod dystrophy 12 [RCV000344815]|Retinal macular dystrophy type 2 [RCV000339072]|Retinitis pigmentosa [RCV000291042]|Stargardt disease 4 [RCV000383008] Chr4:15979886 [GRCh38]
Chr4:15981509 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1491G>T (p.Leu497Phe) single nucleotide variant Cone-rod dystrophy 12 [RCV000291776]|Retinal macular dystrophy type 2 [RCV000344405]|Retinitis pigmentosa [RCV000400713]|Stargardt disease 4 [RCV000383774]|not provided [RCV001510571] Chr4:16000583 [GRCh38]
Chr4:16002206 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.731G>A (p.Arg244Gln) single nucleotide variant Cone-rod dystrophy 12 [RCV000398824]|Retinal macular dystrophy type 2 [RCV000347822]|Retinitis pigmentosa [RCV000369682]|Stargardt disease 4 [RCV000308028]|not provided [RCV001300200] Chr4:16023379 [GRCh38]
Chr4:16025002 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2309C>A (p.Pro770His) single nucleotide variant Cone-rod dystrophy 12 [RCV000314748]|Retinal macular dystrophy type 2 [RCV000393001]|Retinitis pigmentosa [RCV000363627]|Stargardt disease 4 [RCV000308984]|not provided [RCV001518533] Chr4:15984327 [GRCh38]
Chr4:15985950 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.*667A>C single nucleotide variant Cone-rod dystrophy 12 [RCV000348387]|Retinal macular dystrophy type 2 [RCV000352014]|Retinitis pigmentosa [RCV000386635]|Stargardt disease 4 [RCV000294834]|not provided [RCV001660729] Chr4:15968726 [GRCh38]
Chr4:15970349 [GRCh37]
Chr4:4p15.32
benign|likely benign
NM_006017.3(PROM1):c.1377C>T (p.Gly459=) single nucleotide variant Cone-rod dystrophy 12 [RCV000352517]|Retinal macular dystrophy type 2 [RCV000295344]|Retinitis pigmentosa [RCV000401437]|Stargardt disease 4 [RCV000312842]|not provided [RCV001861230] Chr4:16006615 [GRCh38]
Chr4:16008238 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1344C>T (p.Ile448=) single nucleotide variant Cone-rod dystrophy 12 [RCV000354443]|Retinal macular dystrophy type 2 [RCV000407818]|Retinitis pigmentosa [RCV000297263]|Stargardt disease 4 [RCV000355570]|not provided [RCV000998227] Chr4:16006648 [GRCh38]
Chr4:16008271 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.105A>G (p.Glu35=) single nucleotide variant Cone-rod dystrophy 12 [RCV000340399]|Retinal macular dystrophy type 2 [RCV000280677]|Retinitis pigmentosa [RCV000398030]|Stargardt disease 4 [RCV000286424] Chr4:16075802 [GRCh38]
Chr4:16077425 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2374-14dup duplication Cone-Rod Dystrophy, Dominant [RCV000325557]|Macular dystrophy, retinal [RCV000365045]|Retinitis Pigmentosa, Recessive [RCV000389475]|Stargardt Disease, Dominant [RCV000270462]|not provided [RCV000948275] Chr4:15980542..15980543 [GRCh38]
Chr4:15982165..15982166 [GRCh37]
Chr4:4p15.32
benign|uncertain significance
NM_006017.3(PROM1):c.321A>C (p.Ala107=) single nucleotide variant not provided [RCV000308326] Chr4:16033492 [GRCh38]
Chr4:16035115 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.*963A>G single nucleotide variant Cone-rod dystrophy 12 [RCV000323028]|Retinal macular dystrophy type 2 [RCV000358063]|Retinitis pigmentosa [RCV000265688]|Stargardt disease 4 [RCV000380018] Chr4:15968430 [GRCh38]
Chr4:15970053 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2373+13C>G single nucleotide variant Cone-rod dystrophy 12 [RCV000373139]|Retinal macular dystrophy type 2 [RCV000342928]|Retinitis pigmentosa [RCV000278589]|Stargardt disease 4 [RCV000318449] Chr4:15984250 [GRCh38]
Chr4:15985873 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1871G>A (p.Cys624Tyr) single nucleotide variant Cone-rod dystrophy 12 [RCV000269012]|Retinal macular dystrophy type 2 [RCV000333496]|Retinitis pigmentosa [RCV000274850]|Stargardt disease 4 [RCV000387939] Chr4:15992288 [GRCh38]
Chr4:15993911 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2319C>T (p.Thr773=) single nucleotide variant not provided [RCV000487690] Chr4:15984317 [GRCh38]
Chr4:15985940 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.1946C>T (p.Ser649Leu) single nucleotide variant Cone-rod dystrophy 12 [RCV003236583]|Cone-rod dystrophy [RCV001199723]|Retinitis pigmentosa 41 [RCV003338612]|Stargardt disease 4 [RCV000765764]|not provided [RCV000487979] Chr4:15991259 [GRCh38]
Chr4:15992882 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic|uncertain significance
GRCh37/hg19 4p16.3-12(chr4:114784-47569569)x3 copy number gain FETAL DEMISE [RCV002282978] Chr4:114784..47569569 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_006017.3(PROM1):c.1218C>G (p.Leu406=) single nucleotide variant Cone-rod dystrophy 12 [RCV000388013]|Retinal macular dystrophy type 2 [RCV000295982]|Retinitis pigmentosa [RCV000394593]|Stargardt disease 4 [RCV000348661]|not provided [RCV001504867] Chr4:16009032 [GRCh38]
Chr4:16010655 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.*551A>T single nucleotide variant Cone-rod dystrophy 12 [RCV000308271]|Retinal macular dystrophy type 2 [RCV000408241]|Retinitis pigmentosa [RCV000400044]|Stargardt disease 4 [RCV000346622] Chr4:15968842 [GRCh38]
Chr4:15970465 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.*1160A>G single nucleotide variant Cone-rod dystrophy 12 [RCV000320454]|Retinal macular dystrophy type 2 [RCV000377430]|Retinitis pigmentosa [RCV000285990]|Stargardt disease 4 [RCV000291140] Chr4:15968233 [GRCh38]
Chr4:15969856 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1717C>T (p.Leu573Phe) single nucleotide variant Cone-rod dystrophy 12 [RCV000372017]|Retinal macular dystrophy type 2 [RCV000399513]|Retinitis pigmentosa [RCV000287085]|Stargardt disease 4 [RCV000342027]|not provided [RCV001861229] Chr4:15994037 [GRCh38]
Chr4:15995660 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.785-11T>G single nucleotide variant Cone-Rod Dystrophy, Dominant [RCV000287210]|Macular dystrophy, retinal [RCV000339818]|Retinitis Pigmentosa, Recessive [RCV000309550]|Stargardt Disease, Dominant [RCV000401786] Chr4:16018551 [GRCh38]
Chr4:16020174 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1271T>C (p.Leu424Ser) single nucleotide variant Cone-rod dystrophy 12 [RCV000327805]|Retinal macular dystrophy type 2 [RCV000287882]|Retinitis pigmentosa [RCV000384644]|Stargardt disease 4 [RCV000326558] Chr4:16008979 [GRCh38]
Chr4:16010602 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2480T>C (p.Val827Ala) single nucleotide variant Cone-rod dystrophy 12 [RCV000298975]|Retinal macular dystrophy type 2 [RCV000335189]|Retinitis pigmentosa [RCV000392496]|Stargardt disease 4 [RCV000401717] Chr4:15980431 [GRCh38]
Chr4:15982054 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.*1070A>G single nucleotide variant Cone-rod dystrophy 12 [RCV000368634]|Retinal macular dystrophy type 2 [RCV000407525]|Retinitis pigmentosa [RCV000311499]|Stargardt disease 4 [RCV000407588] Chr4:15968323 [GRCh38]
Chr4:15969946 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.-127A>G single nucleotide variant Cone-rod dystrophy 12 [RCV000290663]|Retinal macular dystrophy type 2 [RCV000289358]|Retinitis pigmentosa [RCV000384989]|Stargardt disease 4 [RCV000344310]|Stargardt disease 4 [RCV002480212] Chr4:16076033 [GRCh38]
Chr4:16077656 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.97A>G (p.Asn33Asp) single nucleotide variant not provided [RCV000592517] Chr4:16075810 [GRCh38]
Chr4:16077433 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.524A>G (p.Tyr175Cys) single nucleotide variant not provided [RCV000592738]|not specified [RCV001000733] Chr4:16025298 [GRCh38]
Chr4:16026921 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1234del (p.Tyr412fs) deletion PROM1-related condition [RCV003420038]|Retinal dystrophy [RCV001074705]|not provided [RCV000591097] Chr4:16009016 [GRCh38]
Chr4:16010639 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) single nucleotide variant Inborn genetic diseases [RCV002536520]|not provided [RCV000734444] Chr4:15998457 [GRCh38]
Chr4:16000080 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.2(PROM1):c.(1578+1_1579-1)_(1911+1_1912-1)del deletion Retinal dystrophy [RCV000416309] Chr4:4p15.32 likely pathogenic
NM_006017.3(PROM1):c.1077+1G>C single nucleotide variant not provided [RCV000734753] Chr4:16016165 [GRCh38]
Chr4:16017788 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs) duplication Autosomal recessive retinitis pigmentosa [RCV001257789]|Cone-rod dystrophy 12 [RCV000761312]|Cone-rod dystrophy 2 [RCV001255712]|PROM1-Related Disorders [RCV000779436]|PROM1-related condition [RCV003401399]|Retinal dystrophy [RCV000505153]|Retinitis pigmentosa 41 [RCV000987422]|Retinitis pigmentosa [RCV001003127]|Stargardt disease [RCV002467446]|not provided [RCV000413568] Chr4:16006637..16006638 [GRCh38]
Chr4:16008260..16008261 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.2211+30C>T single nucleotide variant not provided [RCV001545372] Chr4:15985927 [GRCh38]
Chr4:15987550 [GRCh37]
Chr4:4p15.32
likely benign
GRCh37/hg19 4p16.3-15.31(chr4:68345-20533787)x1 copy number loss See cases [RCV000449197] Chr4:68345..20533787 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_006017.3(PROM1):c.622del (p.Thr208fs) deletion Retinal dystrophy [RCV001073994]|Retinitis pigmentosa 41 [RCV000454283]|not provided [RCV001048594] Chr4:16025200 [GRCh38]
Chr4:16026823 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49093788)x3 copy number gain See cases [RCV000446451] Chr4:68345..49093788 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_006017.3(PROM1):c.1199T>C (p.Leu400Pro) single nucleotide variant Cone-rod dystrophy 12 [RCV001147772]|Retinal macular dystrophy type 2 [RCV001147773]|Retinitis pigmentosa [RCV001147774]|Stargardt disease 4 [RCV001151114]|not provided [RCV000431346] Chr4:16009051 [GRCh38]
Chr4:16010674 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter) single nucleotide variant Retinal dystrophy [RCV000504986]|Retinitis pigmentosa 41 [RCV000987427]|not provided [RCV001865639] Chr4:16033377 [GRCh38]
Chr4:16035000 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1002+5G>A single nucleotide variant Cone-rod dystrophy 12 [RCV001145013]|Retinal dystrophy [RCV000505134]|Retinal macular dystrophy type 2 [RCV001145014]|Retinitis pigmentosa [RCV001145015]|Stargardt disease 4 [RCV001146960] Chr4:16018318 [GRCh38]
Chr4:16019941 [GRCh37]
Chr4:4p15.32
likely pathogenic|uncertain significance
NM_006017.3(PROM1):c.730C>T (p.Arg244Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV003236584]|Retinal dystrophy [RCV000504621]|not provided [RCV001857223] Chr4:16023380 [GRCh38]
Chr4:16025003 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1710C>A (p.Tyr570Ter) single nucleotide variant Retinitis pigmentosa [RCV000504677]|not provided [RCV001857222] Chr4:15994044 [GRCh38]
Chr4:15995667 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:68345-15973383)x1 copy number loss See cases [RCV000510662] Chr4:68345..15973383 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q13.1(chr4:68345-66440622)x3 copy number gain See cases [RCV000511193] Chr4:68345..66440622 [GRCh37]
Chr4:4p16.3-q13.1
pathogenic
GRCh37/hg19 4p15.32(chr4:15974221-16897124)x3 copy number gain See cases [RCV000510880] Chr4:15974221..16897124 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p15.32(chr4:15836236-16942209)x3 copy number gain See cases [RCV000510810] Chr4:15836236..16942209 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2189A>G (p.Asn730Ser) single nucleotide variant Inborn genetic diseases [RCV003292505] Chr4:15985979 [GRCh38]
Chr4:15987602 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
NM_006017.3(PROM1):c.1578+1G>A single nucleotide variant Cone-rod dystrophy [RCV001199726]|not provided [RCV000513607] Chr4:16000495 [GRCh38]
Chr4:16002118 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.85C>T (p.Pro29Ser) single nucleotide variant not provided [RCV000658995] Chr4:16075822 [GRCh38]
Chr4:16077445 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.533T>C (p.Val178Ala) single nucleotide variant not provided [RCV000658994] Chr4:16025289 [GRCh38]
Chr4:16026912 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1983+5G>T single nucleotide variant Usher syndrome [RCV000678601] Chr4:15991217 [GRCh38]
Chr4:15992840 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1462G>T (p.Gly488Ter) single nucleotide variant Usher syndrome [RCV000678600] Chr4:16000612 [GRCh38]
Chr4:16002235 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.262dup (p.Ile88fs) duplication Cone-rod dystrophy 12 [RCV000678603] Chr4:16038959..16038960 [GRCh38]
Chr4:16040582..16040583 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2450A>G (p.Lys817Arg) single nucleotide variant Retinitis pigmentosa 41 [RCV000678602]|not provided [RCV002298735] Chr4:15980461 [GRCh38]
Chr4:15982084 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain not provided [RCV000682363] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.1(chr4:4165334-33324781)x1 copy number loss not provided [RCV000682373] Chr4:4165334..33324781 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_006017.3(PROM1):c.456C>G (p.Pro152=) single nucleotide variant not provided [RCV001470779]|not specified [RCV001000893] Chr4:16033357 [GRCh38]
Chr4:16034980 [GRCh37]
Chr4:4p15.32
likely benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2
pathogenic
GRCh37/hg19 4p16.3-11(chr4:1356924-49659859)x3 copy number gain not provided [RCV000743201] Chr4:1356924..49659859 [GRCh37]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-12(chr4:49450-46339070)x3 copy number gain not provided [RCV000743154] Chr4:49450..46339070 [GRCh37]
Chr4:4p16.3-12
pathogenic
NM_006017.3(PROM1):c.1768-4G>A single nucleotide variant not provided [RCV000979322] Chr4:15992395 [GRCh38]
Chr4:15994018 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2582+43C>T single nucleotide variant Cone-rod dystrophy 12 [RCV001789547]|Retinal macular dystrophy type 2 [RCV001789546]|Retinitis pigmentosa 41 [RCV001789544]|Stargardt disease 4 [RCV001789545]|not provided [RCV001709322] Chr4:15979352 [GRCh38]
Chr4:15980975 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1301+2T>C single nucleotide variant Cone-rod dystrophy 12 [RCV000761332]|Cone-rod dystrophy [RCV001199727]|Retinitis pigmentosa 41 [RCV001592948]|not provided [RCV001093373] Chr4:16008947 [GRCh38]
Chr4:16010570 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1136T>C (p.Val379Ala) single nucleotide variant not provided [RCV000762094] Chr4:16013280 [GRCh38]
Chr4:16014903 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.83C>A (p.Ala28Asp) single nucleotide variant not provided [RCV000762095] Chr4:16075824 [GRCh38]
Chr4:16077447 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2514-4A>G single nucleotide variant not provided [RCV000762137] Chr4:15979467 [GRCh38]
Chr4:15981090 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.1577G>A (p.Arg526Gln) single nucleotide variant not provided [RCV000762138] Chr4:16000497 [GRCh38]
Chr4:16002120 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu) single nucleotide variant Inborn genetic diseases [RCV002550601]|Retinitis pigmentosa 41 [RCV000987421]|not provided [RCV001220696] Chr4:15992379 [GRCh38]
Chr4:15994002 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2373+84T>G single nucleotide variant not provided [RCV001708035] Chr4:15984179 [GRCh38]
Chr4:15985802 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1710C>T (p.Tyr570=) single nucleotide variant Cone-rod dystrophy 12 [RCV001146664]|Retinal macular dystrophy type 2 [RCV001144701]|Retinitis pigmentosa [RCV001144702]|Stargardt disease 4 [RCV001144703]|not provided [RCV002557089] Chr4:15994044 [GRCh38]
Chr4:15995667 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.906C>T (p.Leu302=) single nucleotide variant not provided [RCV000998229] Chr4:16018419 [GRCh38]
Chr4:16020042 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.304-98dup duplication not provided [RCV001692878] Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.*1149A>G single nucleotide variant Cone-rod dystrophy 12 [RCV001148168]|Retinal macular dystrophy type 2 [RCV001149730]|Retinitis pigmentosa [RCV001148169]|Stargardt disease 4 [RCV001148170] Chr4:15968244 [GRCh38]
Chr4:15969867 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1003-97T>C single nucleotide variant not provided [RCV001681858] Chr4:16016337 [GRCh38]
Chr4:16017960 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) single nucleotide variant Cone-rod dystrophy 12 [RCV001150812]|Retinal macular dystrophy type 2 [RCV001150810]|Retinitis pigmentosa [RCV001150809]|Stargardt disease 4 [RCV001150811]|not provided [RCV000969187] Chr4:15994003 [GRCh38]
Chr4:15995626 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1194G>A (p.Gln398=) single nucleotide variant not provided [RCV000881222] Chr4:16009056 [GRCh38]
Chr4:16010679 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1576C>G (p.Arg526Gly) single nucleotide variant Retinal dystrophy [RCV001075274] Chr4:16000498 [GRCh38]
Chr4:16002121 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1697dup (p.Asn566fs) duplication Retinal dystrophy [RCV001075408]|not provided [RCV001862849] Chr4:15994056..15994057 [GRCh38]
Chr4:15995679..15995680 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1152G>C (p.Arg384Ser) single nucleotide variant Cone-rod dystrophy 12 [RCV001145008]|Retinal macular dystrophy type 2 [RCV001151120]|Retinitis pigmentosa [RCV001151121]|Stargardt disease 4 [RCV001151119]|not provided [RCV001044541] Chr4:16009098 [GRCh38]
Chr4:16010721 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2590C>T (p.Gln864Ter) single nucleotide variant not provided [RCV001067541] Chr4:15971075 [GRCh38]
Chr4:15972698 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p15.33-15.1(chr4:12778849-27760141) copy number loss not provided [RCV000767707] Chr4:12778849..27760141 [GRCh37]
Chr4:4p15.33-15.1
pathogenic
NC_000004.12:g.(?_16075687)_(16075906_?)del deletion not provided [RCV001033490] Chr4:16077310..16077529 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2472G>A (p.Ser824=) single nucleotide variant not provided [RCV001047040] Chr4:15980439 [GRCh38]
Chr4:15982062 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NC_000004.12:g.(?_16048828)_(16075906_?)del deletion not provided [RCV001032002] Chr4:16050451..16077529 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.303+1G>A single nucleotide variant Retinal dystrophy [RCV001073433]|not provided [RCV001066624] Chr4:16035734 [GRCh38]
Chr4:16037357 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1139C>T (p.Ala380Val) single nucleotide variant Retinal dystrophy [RCV001073902]|not provided [RCV002554690] Chr4:16013277 [GRCh38]
Chr4:16014900 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1579-2A>C single nucleotide variant Retinal dystrophy [RCV001073944]|not provided [RCV001244457] Chr4:15998490 [GRCh38]
Chr4:16000113 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.695-6A>G single nucleotide variant Retinal dystrophy [RCV001073979]|not provided [RCV001483536] Chr4:16023421 [GRCh38]
Chr4:16025044 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1768-4G>T single nucleotide variant Retinal dystrophy [RCV001074047]|not provided [RCV002067733] Chr4:15992395 [GRCh38]
Chr4:15994018 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2446G>C (p.Ala816Pro) single nucleotide variant Retinal dystrophy [RCV001074064]|Stargardt disease 4 [RCV002482152]|not provided [RCV001092551] Chr4:15980465 [GRCh38]
Chr4:15982088 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.12:g.(?_16016166)_(16075906_?)dup duplication not provided [RCV001033765] Chr4:16017789..16077529 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2479G>A (p.Val827Met) single nucleotide variant Retinal dystrophy [RCV001075108]|not provided [RCV002554743] Chr4:15980432 [GRCh38]
Chr4:15982055 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1229_1230del (p.Ser410fs) microsatellite PROM1-Related Disorders [RCV000779437] Chr4:16009020..16009021 [GRCh38]
Chr4:16010643..16010644 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.12:g.8398067_17505522inv inversion Dihydropteridine reductase deficiency [RCV000768549] Chr4:8398067..17505522 [GRCh38]
Chr4:4p16.1-15.32
pathogenic
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys) single nucleotide variant Retinal dystrophy [RCV001075504]|Retinitis pigmentosa [RCV000787917]|not provided [RCV001058099] Chr4:15987683 [GRCh38]
Chr4:15989306 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic|uncertain significance
NM_006017.3(PROM1):c.303+10T>G single nucleotide variant not provided [RCV000925682] Chr4:16035725 [GRCh38]
Chr4:16037348 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.921C>T (p.Cys307=) single nucleotide variant not provided [RCV000982506] Chr4:16018404 [GRCh38]
Chr4:16020027 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1128G>A (p.Thr376=) single nucleotide variant not provided [RCV000909771] Chr4:16013288 [GRCh38]
Chr4:16014911 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1142-1G>A single nucleotide variant Cone-rod dystrophy 12 [RCV001352977]|Retinal dystrophy [RCV001075075]|Stargardt disease 4 [RCV002497313]|not provided [RCV000998228] Chr4:16009109 [GRCh38]
Chr4:16010732 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.677C>T (p.Ala226Val) single nucleotide variant Cone-rod dystrophy 12 [RCV001147962]|Retinal macular dystrophy type 2 [RCV001149511]|Retinitis pigmentosa [RCV001147963]|Stargardt disease 4 [RCV001147961]|not provided [RCV000998230] Chr4:16024312 [GRCh38]
Chr4:16025935 [GRCh37]
Chr4:4p15.32
conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.2050C>T (p.Arg684Ter) single nucleotide variant Retinitis pigmentosa 41 [RCV000784975]|not provided [RCV001093370] Chr4:15989758 [GRCh38]
Chr4:15991381 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2130+95G>A single nucleotide variant not provided [RCV000836737] Chr4:15987568 [GRCh38]
Chr4:15989191 [GRCh37]
Chr4:4p15.32
benign
NC_000004.12:g.15984361G>C single nucleotide variant not provided [RCV000826342] Chr4:15985984 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1911+8G>A single nucleotide variant Cone-rod dystrophy 12 [RCV001146547]|Retinal macular dystrophy type 2 [RCV001149316]|Retinitis pigmentosa [RCV000787863]|Stargardt disease 4 [RCV001146548]|not provided [RCV000895051] Chr4:15992240 [GRCh38]
Chr4:15993863 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.2461C>T (p.Arg821Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV003225955]|Retinitis pigmentosa [RCV000787650]|not provided [RCV001388262] Chr4:15980450 [GRCh38]
Chr4:15982073 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NC_000004.12:g.16035729C>T single nucleotide variant not provided [RCV000836050] Chr4:16037352 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.*640T>A single nucleotide variant Cone-rod dystrophy 12 [RCV001148385]|Retinal macular dystrophy type 2 [RCV001147456]|Retinitis pigmentosa [RCV001147457]|Stargardt disease 4 [RCV001147455] Chr4:15968753 [GRCh38]
Chr4:15970376 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.250T>A (p.Tyr84Asn) single nucleotide variant Cone-rod dystrophy 12 [RCV001149625]|Retinal macular dystrophy type 2 [RCV001149626]|Retinitis pigmentosa [RCV001149624]|Stargardt disease 4 [RCV001149627] Chr4:16038972 [GRCh38]
Chr4:16040595 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1407G>A (p.Pro469=) single nucleotide variant Cone-rod dystrophy 12 [RCV001146764]|Retinal macular dystrophy type 2 [RCV001146765]|Retinitis pigmentosa [RCV001146763]|Stargardt disease 4 [RCV001146762]|not provided [RCV001442163] Chr4:16006585 [GRCh38]
Chr4:16008208 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1984-1G>T single nucleotide variant Cone-rod dystrophy [RCV003324540]|Leber congenital amaurosis [RCV003324541]|PROM1-related condition [RCV003411928]|Retinitis pigmentosa 41 [RCV000987420]|Stargardt disease [RCV002467454]|not provided [RCV001049161] Chr4:15989825 [GRCh38]
Chr4:15991448 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.784+1G>A single nucleotide variant Leber congenital amaurosis [RCV003324543]|Retinal dystrophy [RCV001075553]|Retinitis pigmentosa 41 [RCV000987424]|Stargardt disease [RCV002466264]|not provided [RCV001047807] Chr4:16023325 [GRCh38]
Chr4:16024948 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV001198630]|Retinitis pigmentosa 41 [RCV000987425]|not provided [RCV001383311] Chr4:16024337 [GRCh38]
Chr4:16025960 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-15.2(chr4:49450-24280482)x1 copy number loss See cases [RCV001007422] Chr4:49450..24280482 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_006017.3(PROM1):c.1387T>C (p.Tyr463His) single nucleotide variant Cone-rod dystrophy 12 [RCV001146766]|Retinal macular dystrophy type 2 [RCV001146767]|Retinitis pigmentosa [RCV001146768]|Stargardt disease 4 [RCV001147665] Chr4:16006605 [GRCh38]
Chr4:16008228 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.784+64T>C single nucleotide variant not provided [RCV000836687] Chr4:16023262 [GRCh38]
Chr4:16024885 [GRCh37]
Chr4:4p15.32
benign
NC_000004.12:g.15980543A>G single nucleotide variant not provided [RCV000836688] Chr4:15982166 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1578+69A>G single nucleotide variant not provided [RCV000836736] Chr4:16000427 [GRCh38]
Chr4:16002050 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2281-64C>T single nucleotide variant not provided [RCV000836738] Chr4:15984419 [GRCh38]
Chr4:15986042 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2094C>T (p.Ser698=) single nucleotide variant not provided [RCV000919293] Chr4:15987699 [GRCh38]
Chr4:15989322 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2112C>T (p.Arg704=) single nucleotide variant Cone-rod dystrophy 12 [RCV001146426]|Retinal macular dystrophy type 2 [RCV001146425]|Retinitis pigmentosa [RCV001146427]|Stargardt disease 4 [RCV001146424]|Stargardt disease [RCV000844932]|not provided [RCV000908779] Chr4:15987681 [GRCh38]
Chr4:15989304 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance|not provided
NC_000004.12:g.15980541dup duplication not provided [RCV000836759] Chr4:4p15.32 benign
NM_006017.3(PROM1):c.630+2T>A single nucleotide variant Retinal dystrophy [RCV001075335]|Retinitis pigmentosa [RCV000787651] Chr4:16025190 [GRCh38]
Chr4:16026813 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2489+8T>C single nucleotide variant Cone-rod dystrophy 12 [RCV001150065]|Retinal macular dystrophy type 2 [RCV001148499]|Retinitis pigmentosa [RCV001148497]|Stargardt disease 4 [RCV001148498] Chr4:15980414 [GRCh38]
Chr4:15982037 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.*198T>C single nucleotide variant Cone-rod dystrophy 12 [RCV001149948]|Retinal macular dystrophy type 2 [RCV001149946]|Retinitis pigmentosa [RCV001149947]|Stargardt disease 4 [RCV001149945] Chr4:15969195 [GRCh38]
Chr4:15970818 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2387T>A (p.Phe796Tyr) single nucleotide variant not provided [RCV001051890] Chr4:15980524 [GRCh38]
Chr4:15982147 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2094C>A (p.Ser698Arg) single nucleotide variant Cone-rod dystrophy 12 [RCV001149203]|Retinal macular dystrophy type 2 [RCV001146429]|Retinitis pigmentosa [RCV001146430]|Stargardt disease 4 [RCV001146428]|not provided [RCV001229010] Chr4:15987699 [GRCh38]
Chr4:15989322 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1738A>C (p.Asn580His) single nucleotide variant Cone-rod dystrophy 12 [RCV001144700]|Retinal macular dystrophy type 2 [RCV001150814]|Retinitis pigmentosa [RCV001150815]|Stargardt disease 4 [RCV001150813]|not provided [RCV001300999] Chr4:15994016 [GRCh38]
Chr4:15995639 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1856A>G (p.Gln619Arg) single nucleotide variant not provided [RCV000998225] Chr4:15992303 [GRCh38]
Chr4:15993926 [GRCh37]
Chr4:4p15.32
likely benign|conflicting interpretations of pathogenicity
GRCh37/hg19 4p16.3-15.2(chr4:68345-27423424)x3 copy number gain not provided [RCV001005510] Chr4:68345..27423424 [GRCh37]
Chr4:4p16.3-15.2
pathogenic
NM_006017.3(PROM1):c.869del (p.Ser290fs) deletion Cone-rod dystrophy [RCV003324542]|Retinitis pigmentosa 41 [RCV000987423]|not provided [RCV001858666] Chr4:16018456 [GRCh38]
Chr4:16020079 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1301+11C>A single nucleotide variant Cone-rod dystrophy 12 [RCV001151006]|Retinal macular dystrophy type 2 [RCV001151004]|Retinitis pigmentosa [RCV001144910]|Stargardt disease 4 [RCV001151005] Chr4:16008938 [GRCh38]
Chr4:16010561 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1301+10T>A single nucleotide variant Cone-rod dystrophy 12 [RCV001144914]|Retinal macular dystrophy type 2 [RCV001144912]|Retinitis pigmentosa [RCV001144911]|Stargardt disease 4 [RCV001144913] Chr4:16008939 [GRCh38]
Chr4:16010562 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.158G>A (p.Gly53Asp) single nucleotide variant Cone-rod dystrophy 12 [RCV001145315]|Retinal macular dystrophy type 2 [RCV001145317]|Retinitis pigmentosa [RCV001145316]|Stargardt disease 4 [RCV001147260]|not provided [RCV001366102] Chr4:16075749 [GRCh38]
Chr4:16077372 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.*781G>A single nucleotide variant Cone-rod dystrophy 12 [RCV001149842]|Retinal macular dystrophy type 2 [RCV001145504]|Retinitis pigmentosa [RCV001149844]|Stargardt disease 4 [RCV001149843] Chr4:15968612 [GRCh38]
Chr4:15970235 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1767+4A>G single nucleotide variant Isolated macular dystrophy [RCV001199728] Chr4:15993983 [GRCh38]
Chr4:15995606 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.89A>G (p.Lys30Arg) single nucleotide variant not provided [RCV001233243] Chr4:16075818 [GRCh38]
Chr4:16077441 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1682+3A>G single nucleotide variant Retinitis pigmentosa 41 [RCV003483804]|not provided [RCV001240494] Chr4:15998382 [GRCh38]
Chr4:16000005 [GRCh37]
Chr4:4p15.32
pathogenic|not provided
NM_006017.3(PROM1):c.2281-2A>G single nucleotide variant Retinitis pigmentosa 41 [RCV003483805]|not provided [RCV001240495] Chr4:15984357 [GRCh38]
Chr4:15985980 [GRCh37]
Chr4:4p15.32
likely pathogenic|not provided
NM_006017.3(PROM1):c.847C>A (p.Gln283Lys) single nucleotide variant not provided [RCV001240496] Chr4:16018478 [GRCh38]
Chr4:16020101 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1301+3G>A single nucleotide variant not provided [RCV001204990] Chr4:16008946 [GRCh38]
Chr4:16010569 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2340T>G (p.Asp780Glu) single nucleotide variant not provided [RCV001240747] Chr4:15984296 [GRCh38]
Chr4:15985919 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.149G>A (p.Gly50Glu) single nucleotide variant not provided [RCV001222847] Chr4:16075758 [GRCh38]
Chr4:16077381 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2111G>A (p.Arg704His) single nucleotide variant not provided [RCV001224497] Chr4:15987682 [GRCh38]
Chr4:15989305 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1834G>A (p.Ala612Thr) single nucleotide variant not provided [RCV001206215] Chr4:15992325 [GRCh38]
Chr4:15993948 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2471C>T (p.Ser824Leu) single nucleotide variant not provided [RCV001209225] Chr4:15980440 [GRCh38]
Chr4:15982063 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1796A>T (p.Glu599Val) single nucleotide variant not provided [RCV001242110] Chr4:15992363 [GRCh38]
Chr4:15993986 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1778G>A (p.Ser593Asn) single nucleotide variant not provided [RCV001242134] Chr4:15992381 [GRCh38]
Chr4:15994004 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1455-1G>A single nucleotide variant not provided [RCV001207406] Chr4:16000620 [GRCh38]
Chr4:16002243 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2362_2372del (p.Ile788fs) deletion not provided [RCV001207407] Chr4:15984264..15984274 [GRCh38]
Chr4:15985887..15985897 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.247G>A (p.Ala83Thr) single nucleotide variant Inborn genetic diseases [RCV003284047]|not provided [RCV001207483] Chr4:16038975 [GRCh38]
Chr4:16040598 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1730A>G (p.Asn577Ser) single nucleotide variant not provided [RCV001202102] Chr4:15994024 [GRCh38]
Chr4:15995647 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2281-3del deletion not provided [RCV001229533] Chr4:15984358 [GRCh38]
Chr4:15985981 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.253G>T (p.Glu85Ter) single nucleotide variant not provided [RCV001236342] Chr4:16038969 [GRCh38]
Chr4:16040592 [GRCh37]
Chr4:4p15.32
pathogenic
GRCh37/hg19 4p15.33-15.2(chr4:13529798-22750583)x1 copy number loss not provided [RCV000998337] Chr4:13529798..22750583 [GRCh37]
Chr4:4p15.33-15.2
uncertain significance
NM_006017.3(PROM1):c.1877_1878del (p.Ile626fs) deletion Leber congenital amaurosis 1 [RCV000855429] Chr4:15992281..15992282 [GRCh38]
Chr4:15993904..15993905 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1468A>T (p.Ser490Cys) single nucleotide variant Cone-rod dystrophy 12 [RCV001144804]|Retinal macular dystrophy type 2 [RCV001144802]|Retinitis pigmentosa [RCV001146761]|Stargardt disease 4 [RCV001144803]|not provided [RCV001326038] Chr4:16000606 [GRCh38]
Chr4:16002229 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.706G>A (p.Val236Met) single nucleotide variant Cone-rod dystrophy 12 [RCV001147065]|Retinal macular dystrophy type 2 [RCV001147960]|Retinitis pigmentosa [RCV001147064]|Stargardt disease 4 [RCV001147066]|not provided [RCV001234845] Chr4:16023404 [GRCh38]
Chr4:16025027 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1628_1629del (p.Ser543fs) microsatellite not provided [RCV001093371] Chr4:15998438..15998439 [GRCh38]
Chr4:16000061..16000062 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2130+2del deletion Autosomal recessive retinitis pigmentosa [RCV001257790]|not provided [RCV001211454] Chr4:15987661 [GRCh38]
Chr4:15989284 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.2211+6C>T single nucleotide variant not provided [RCV001245772] Chr4:15985951 [GRCh38]
Chr4:15987574 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2280+35G>A single nucleotide variant not provided [RCV001666448] Chr4:15985725 [GRCh38]
Chr4:15987348 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1455-75G>A single nucleotide variant not provided [RCV001710400] Chr4:16000694 [GRCh38]
Chr4:16002317 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.684A>G (p.Thr228=) single nucleotide variant not provided [RCV000883168] Chr4:16024305 [GRCh38]
Chr4:16025928 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.139del (p.His47fs) deletion Leber congenital amaurosis 1 [RCV000855430]|Retinitis pigmentosa 41 [RCV002051900]|not provided [RCV001858523] Chr4:16075768 [GRCh38]
Chr4:16077391 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.801A>G (p.Lys267=) single nucleotide variant not provided [RCV000903691] Chr4:16018524 [GRCh38]
Chr4:16020147 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.333A>G (p.Leu111=) single nucleotide variant not provided [RCV000910468] Chr4:16033480 [GRCh38]
Chr4:16035103 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.303+1G>T single nucleotide variant not provided [RCV001226730] Chr4:16035734 [GRCh38]
Chr4:16037357 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1945T>C (p.Ser649Pro) single nucleotide variant not provided [RCV001208274] Chr4:15991260 [GRCh38]
Chr4:15992883 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.734T>C (p.Leu245Pro) single nucleotide variant Stargardt disease 4 [RCV001199380] Chr4:16023376 [GRCh38]
Chr4:16024999 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.*681C>G single nucleotide variant Cone-rod dystrophy 12 [RCV001145505]|Retinal macular dystrophy type 2 [RCV001145507]|Retinitis pigmentosa [RCV001147454]|Stargardt disease 4 [RCV001145506] Chr4:15968712 [GRCh38]
Chr4:15970335 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.*107G>T single nucleotide variant Cone-rod dystrophy 12 [RCV001145613]|Retinal macular dystrophy type 2 [RCV001145610]|Retinitis pigmentosa [RCV001145612]|Stargardt disease 4 [RCV001145611] Chr4:15969286 [GRCh38]
Chr4:15970909 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1272A>T (p.Leu424Phe) single nucleotide variant not provided [RCV001245343] Chr4:16008978 [GRCh38]
Chr4:16010601 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1984C>A (p.Pro662Thr) single nucleotide variant not provided [RCV001236912] Chr4:15989824 [GRCh38]
Chr4:15991447 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.*580T>A single nucleotide variant Cone-rod dystrophy 12 [RCV001148388]|Retinal macular dystrophy type 2 [RCV001148389]|Retinitis pigmentosa [RCV001148387]|Stargardt disease 4 [RCV001148386] Chr4:15968813 [GRCh38]
Chr4:15970436 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1925C>T (p.Pro642Leu) single nucleotide variant not provided [RCV001227856] Chr4:15991280 [GRCh38]
Chr4:15992903 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2021C>T (p.Ala674Val) single nucleotide variant not provided [RCV001057906] Chr4:15989787 [GRCh38]
Chr4:15991410 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.50C>A (p.Ser17Tyr) single nucleotide variant not provided [RCV001221310] Chr4:16075857 [GRCh38]
Chr4:16077480 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1954T>C (p.Tyr652His) single nucleotide variant not provided [RCV001243730] Chr4:15991251 [GRCh38]
Chr4:15992874 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2397A>G (p.Gly799=) single nucleotide variant Cone-rod dystrophy 12 [RCV001143945]|Retinal macular dystrophy type 2 [RCV001143946]|Retinitis pigmentosa [RCV001143944]|Stargardt disease 4 [RCV001143943] Chr4:15980514 [GRCh38]
Chr4:15982137 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.731G>T (p.Arg244Leu) single nucleotide variant not provided [RCV001221834] Chr4:16023379 [GRCh38]
Chr4:16025002 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2170C>T (p.Gln724Ter) single nucleotide variant not provided [RCV001241892] Chr4:15985998 [GRCh38]
Chr4:15987621 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1455-4C>A single nucleotide variant not provided [RCV000998226] Chr4:16000623 [GRCh38]
Chr4:16002246 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.714A>G (p.Gly238=) single nucleotide variant Cone-rod dystrophy 12 [RCV001147060]|Retinal macular dystrophy type 2 [RCV001147063]|Retinitis pigmentosa [RCV001147062]|Stargardt disease 4 [RCV001147061]|not provided [RCV000890690]|not specified [RCV001000892] Chr4:16023396 [GRCh38]
Chr4:16025019 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.999G>A (p.Arg333=) single nucleotide variant not provided [RCV000911905] Chr4:16018326 [GRCh38]
Chr4:16019949 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1279T>C (p.Leu427=) single nucleotide variant Cone-rod dystrophy 12 [RCV001146867]|Retinal macular dystrophy type 2 [RCV001144915]|Retinitis pigmentosa [RCV001144916]|Stargardt disease 4 [RCV001144917]|not provided [RCV000935482] Chr4:16008971 [GRCh38]
Chr4:16010594 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.1983+62T>G single nucleotide variant not provided [RCV001659556] Chr4:15991160 [GRCh38]
Chr4:15992783 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.304-98_304-94dup duplication not provided [RCV001563184] Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.631-2A>G single nucleotide variant Retinal dystrophy [RCV002466816] Chr4:16024360 [GRCh38]
Chr4:16025983 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2131-75T>G single nucleotide variant not provided [RCV001581974] Chr4:15986112 [GRCh38]
Chr4:15987735 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.694+81G>A single nucleotide variant not provided [RCV001676925] Chr4:16024214 [GRCh38]
Chr4:16025837 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.304-98_304-97dup duplication not provided [RCV001597406] Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1455-46A>G single nucleotide variant not provided [RCV001641695] Chr4:16000665 [GRCh38]
Chr4:16002288 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2076+80C>T single nucleotide variant not provided [RCV001686750] Chr4:15989652 [GRCh38]
Chr4:15991275 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.981_987delinsCTGGCTTAGAG (p.Ser328fs) indel not provided [RCV001009126] Chr4:16018338..16018344 [GRCh38]
Chr4:16019961..16019967 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.510-48A>G single nucleotide variant not provided [RCV001716482] Chr4:16025360 [GRCh38]
Chr4:16026983 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) single nucleotide variant Cone-rod dystrophy 12 [RCV001150066]|Retinal macular dystrophy type 2 [RCV001150067]|Retinitis pigmentosa [RCV001150069]|Stargardt disease 4 [RCV001150068]|not provided [RCV001326315] Chr4:15980426 [GRCh38]
Chr4:15982049 [GRCh37]
Chr4:4p15.32
benign|likely benign|uncertain significance
NM_006017.3(PROM1):c.*189A>G single nucleotide variant Cone-rod dystrophy 12 [RCV001145609]|Retinal macular dystrophy type 2 [RCV001149950]|Retinitis pigmentosa [RCV001149951]|Stargardt disease 4 [RCV001149949] Chr4:15969204 [GRCh38]
Chr4:15970827 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p16.2-15.32(chr4:5914109-17264668)x1 copy number loss not provided [RCV001005519] Chr4:5914109..17264668 [GRCh37]
Chr4:4p16.2-15.32
likely pathogenic
NM_006017.3(PROM1):c.400C>T (p.Arg134Cys) single nucleotide variant Stargardt disease 4 [RCV001199381]|not specified [RCV001002450] Chr4:16033413 [GRCh38]
Chr4:16035036 [GRCh37]
Chr4:4p15.32
pathogenic|uncertain significance
NM_006017.3(PROM1):c.2130+95del deletion not provided [RCV001707470] Chr4:15987568 [GRCh38]
Chr4:15989191 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1276dup (p.Thr426fs) duplication not provided [RCV001063591] Chr4:16008973..16008974 [GRCh38]
Chr4:16010596..16010597 [GRCh37]
Chr4:4p15.32
pathogenic|conflicting interpretations of pathogenicity
NM_006017.3(PROM1):c.1956T>G (p.Tyr652Ter) single nucleotide variant Retinitis pigmentosa 41 [RCV001591824]|not provided [RCV002569129] Chr4:15991249 [GRCh38]
Chr4:15992872 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.694+65T>C single nucleotide variant not provided [RCV001691393] Chr4:16024230 [GRCh38]
Chr4:16025853 [GRCh37]
Chr4:4p15.32
benign
GRCh37/hg19 4p16.3-15.31(chr4:68598-18912995)x1 copy number loss not provided [RCV001537927] Chr4:68598..18912995 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
NM_006017.3(PROM1):c.304-98_304-95dup duplication not provided [RCV001610210] Chr4:16033586..16033587 [GRCh38]
Chr4:16035209..16035210 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1339C>G (p.Leu447Val) single nucleotide variant not provided [RCV001065899] Chr4:16006653 [GRCh38]
Chr4:16008276 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2582+9A>C single nucleotide variant Cone-rod dystrophy 12 [RCV001145615]|Retinal macular dystrophy type 2 [RCV001145728]|Retinitis pigmentosa [RCV001145616]|Stargardt disease 4 [RCV001145614]|not provided [RCV002557115] Chr4:15979386 [GRCh38]
Chr4:15981009 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.232A>C (p.Lys78Gln) single nucleotide variant not provided [RCV001235550] Chr4:16038990 [GRCh38]
Chr4:16040613 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1563C>A (p.Ser521Arg) single nucleotide variant not provided [RCV001207513] Chr4:16000511 [GRCh38]
Chr4:16002134 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1528A>T (p.Asn510Tyr) single nucleotide variant not provided [RCV001208447] Chr4:16000546 [GRCh38]
Chr4:16002169 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.642T>A (p.Tyr214Ter) single nucleotide variant Cone-rod dystrophy [RCV003324549]|Retinal dystrophy [RCV001075595]|not provided [RCV001037546] Chr4:16024347 [GRCh38]
Chr4:16025970 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2050C>G (p.Arg684Gly) single nucleotide variant Cone-rod dystrophy 12 [RCV001149207]|Retinal macular dystrophy type 2 [RCV001149205]|Retinitis pigmentosa [RCV001149206]|Stargardt disease 4 [RCV001149204]|not provided [RCV002557210] Chr4:15989758 [GRCh38]
Chr4:15991381 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2540A>G (p.His847Arg) single nucleotide variant Cone-rod dystrophy 12 [RCV001198793] Chr4:15979437 [GRCh38]
Chr4:15981060 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2415A>T (p.Leu805Phe) single nucleotide variant Retinal dystrophy [RCV001074912] Chr4:15980496 [GRCh38]
Chr4:15982119 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2373G>T (p.Leu791Phe) single nucleotide variant Retinal dystrophy [RCV001075023] Chr4:15984263 [GRCh38]
Chr4:15985886 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.77_78del (p.Thr26fs) microsatellite Retinal dystrophy [RCV001075126] Chr4:16075829..16075830 [GRCh38]
Chr4:16077452..16077453 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2131-1G>A single nucleotide variant Retinal dystrophy [RCV001075128] Chr4:15986038 [GRCh38]
Chr4:15987661 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2490-2A>G single nucleotide variant Retinal dystrophy [RCV001075507]|Retinal macular dystrophy type 2 [RCV001724244]|not provided [RCV001228903] Chr4:15979906 [GRCh38]
Chr4:15981529 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.1682+1G>T single nucleotide variant Retinal dystrophy [RCV001075727] Chr4:15998384 [GRCh38]
Chr4:16000007 [GRCh37]
Chr4:4p15.32
likely pathogenic
GRCh37/hg19 4p16.3-11(chr4:49450-49620898)x3 copy number gain See cases [RCV001194594] Chr4:49450..49620898 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006017.3(PROM1):c.1195C>T (p.Arg399Cys) single nucleotide variant Cone-rod dystrophy 12 [RCV001151116]|Retinal macular dystrophy type 2 [RCV001151118]|Retinitis pigmentosa [RCV001151115]|Stargardt disease 4 [RCV001151117]|not provided [RCV001858986] Chr4:16009055 [GRCh38]
Chr4:16010678 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1911+9C>T single nucleotide variant not provided [RCV001043956] Chr4:15992239 [GRCh38]
Chr4:15993862 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2167G>A (p.Ala723Thr) single nucleotide variant not provided [RCV001044564] Chr4:15986001 [GRCh38]
Chr4:15987624 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1500del (p.Ile500fs) deletion Retinitis pigmentosa 41 [RCV001587222]|not provided [RCV001204940] Chr4:16000574 [GRCh38]
Chr4:16002197 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1A>G (p.Met1Val) single nucleotide variant not provided [RCV001063747] Chr4:16075906 [GRCh38]
Chr4:16077529 [GRCh37]
Chr4:4p15.32
likely pathogenic|uncertain significance
NC_000004.12:g.(?_15992248)_(15998488_?)del deletion not provided [RCV001032243] Chr4:15993871..16000111 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2414dup (p.Leu805fs) duplication Retinitis pigmentosa [RCV001199724]|not provided [RCV001092552] Chr4:15980496..15980497 [GRCh38]
Chr4:15982119..15982120 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2211+1G>A single nucleotide variant Cone-rod dystrophy [RCV001199725]|not provided [RCV001092553] Chr4:15985956 [GRCh38]
Chr4:15987579 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1384G>A (p.Gly462Ser) single nucleotide variant not provided [RCV001206998] Chr4:16006608 [GRCh38]
Chr4:16008231 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.383A>G (p.Tyr128Cys) single nucleotide variant not provided [RCV001230833] Chr4:16033430 [GRCh38]
Chr4:16035053 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.11T>C (p.Val4Ala) single nucleotide variant Cone-rod dystrophy 12 [RCV001198097] Chr4:16075896 [GRCh38]
Chr4:16077519 [GRCh37]
Chr4:4p15.32
likely benign
NC_000004.12:g.(?_15992248)_(15994071_?)del deletion not provided [RCV001033034] Chr4:15993871..15995694 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.380G>T (p.Gly127Val) single nucleotide variant Cone-rod dystrophy 12 [RCV001145211]|Retinal macular dystrophy type 2 [RCV001145212]|Retinitis pigmentosa [RCV001145210]|Stargardt disease 4 [RCV001147172] Chr4:16033433 [GRCh38]
Chr4:16035056 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.*1143A>C single nucleotide variant Cone-rod dystrophy 12 [RCV001149732]|Retinal macular dystrophy type 2 [RCV001149731]|Retinitis pigmentosa [RCV001149733]|Stargardt disease 4 [RCV001149734] Chr4:15968250 [GRCh38]
Chr4:15969873 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2300C>T (p.Ser767Leu) single nucleotide variant Retinal dystrophy [RCV001073268]|not provided [RCV001862491] Chr4:15984336 [GRCh38]
Chr4:15985959 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1002+6C>T single nucleotide variant Retinal dystrophy [RCV001073374] Chr4:16018317 [GRCh38]
Chr4:16019940 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2020G>T (p.Ala674Ser) single nucleotide variant Retinal dystrophy [RCV001073409] Chr4:15989788 [GRCh38]
Chr4:15991411 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1337C>A (p.Thr446Asn) single nucleotide variant not provided [RCV001093372] Chr4:16006655 [GRCh38]
Chr4:16008278 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1234_1239del (p.Tyr412_Val413del) deletion not provided [RCV001071556] Chr4:16009011..16009016 [GRCh38]
Chr4:16010634..16010639 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1036A>G (p.Asn346Asp) single nucleotide variant Cone-rod dystrophy 12 [RCV001145010]|Retinal macular dystrophy type 2 [RCV001145009]|Retinitis pigmentosa [RCV001145011]|Stargardt disease 4 [RCV001145012]|not provided [RCV001071853] Chr4:16016207 [GRCh38]
Chr4:16017830 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val) single nucleotide variant Retinal dystrophy [RCV001073905]|Retinitis pigmentosa 41 [RCV001376252]|Stargardt disease 4 [RCV002489720]|not provided [RCV001862810] Chr4:15984309 [GRCh38]
Chr4:15985932 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.132A>T (p.Gln44His) single nucleotide variant not provided [RCV001038799] Chr4:16075775 [GRCh38]
Chr4:16077398 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.335G>A (p.Cys112Tyr) single nucleotide variant not provided [RCV001230832] Chr4:16033478 [GRCh38]
Chr4:16035101 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1309G>A (p.Gly437Ser) single nucleotide variant not provided [RCV001245767] Chr4:16006683 [GRCh38]
Chr4:16008306 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.376G>A (p.Val126Met) single nucleotide variant Cone-rod dystrophy 12 [RCV001147176]|Retinal macular dystrophy type 2 [RCV001147175]|Retinitis pigmentosa [RCV001147174]|Stargardt disease 4 [RCV001147173]|not provided [RCV001241210] Chr4:16033437 [GRCh38]
Chr4:16035060 [GRCh37]
Chr4:4p15.32
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_006017.3(PROM1):c.*985C>G single nucleotide variant Cone-rod dystrophy 12 [RCV001147340]|Retinal macular dystrophy type 2 [RCV001148280]|Retinitis pigmentosa [RCV001147339]|Stargardt disease 4 [RCV001147341] Chr4:15968408 [GRCh38]
Chr4:15970031 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1204A>G (p.Ile402Val) single nucleotide variant not provided [RCV001233531] Chr4:16009046 [GRCh38]
Chr4:16010669 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1579-12A>C single nucleotide variant Cone-rod dystrophy 12 [RCV001147571]|Retinal macular dystrophy type 2 [RCV001147573]|Retinitis pigmentosa [RCV001147572]|Stargardt disease 4 [RCV001147574]|not provided [RCV002070791] Chr4:15998500 [GRCh38]
Chr4:16000123 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.1166T>C (p.Ile389Thr) single nucleotide variant not provided [RCV001205431] Chr4:16009084 [GRCh38]
Chr4:16010707 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1238T>A (p.Val413Asp) single nucleotide variant Retinal dystrophy [RCV001075086] Chr4:16009012 [GRCh38]
Chr4:16010635 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.1414C>T (p.Arg472Ter) single nucleotide variant Retinal dystrophy [RCV001075098]|not provided [RCV001240750] Chr4:16006578 [GRCh38]
Chr4:16008201 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.879C>A (p.Ser293Arg) single nucleotide variant Retinal dystrophy [RCV001075103]|not provided [RCV001862843] Chr4:16018446 [GRCh38]
Chr4:16020069 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.562A>G (p.Lys188Glu) single nucleotide variant Retinal dystrophy [RCV001075458]|not provided [RCV001318959] Chr4:16025260 [GRCh38]
Chr4:16026883 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.53T>C (p.Phe18Ser) single nucleotide variant Retinal dystrophy [RCV001075541] Chr4:16075854 [GRCh38]
Chr4:16077477 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1709_1710insAA (p.Tyr570Ter) insertion not provided [RCV001231904] Chr4:15994044..15994045 [GRCh38]
Chr4:15995667..15995668 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2236A>C (p.Ile746Leu) single nucleotide variant Inborn genetic diseases [RCV002563728]|not provided [RCV001229587] Chr4:15985804 [GRCh38]
Chr4:15987427 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1150_1151del (p.Arg384fs) deletion Cone-rod dystrophy 2 [RCV001255713] Chr4:16009099..16009100 [GRCh38]
Chr4:16010722..16010723 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1983+43T>C single nucleotide variant not provided [RCV001641581] Chr4:15991179 [GRCh38]
Chr4:15992802 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1557C>G (p.Tyr519Ter) single nucleotide variant Autosomal recessive retinitis pigmentosa [RCV001257888] Chr4:16000517 [GRCh38]
Chr4:16002140 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2209G>T (p.Glu737Ter) single nucleotide variant Retinitis pigmentosa 41 [RCV001808087] Chr4:15985959 [GRCh38]
Chr4:15987582 [GRCh37]
Chr4:4p15.32
likely pathogenic
GRCh37/hg19 4p15.32(chr4:16042466-16135616)x1 copy number loss not provided [RCV001259844] Chr4:16042466..16135616 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p15.32(chr4:15940736-16004666)x1 copy number loss not provided [RCV001259845] Chr4:15940736..16004666 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.199C>T (p.Gln67Ter) single nucleotide variant not provided [RCV001268778] Chr4:16075708 [GRCh38]
Chr4:16077331 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.661A>C (p.Thr221Pro) single nucleotide variant not provided [RCV001303720] Chr4:16024328 [GRCh38]
Chr4:16025951 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.728A>C (p.Asp243Ala) single nucleotide variant not provided [RCV001341658] Chr4:16023382 [GRCh38]
Chr4:16025005 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1656G>A (p.Met552Ile) single nucleotide variant not provided [RCV001341688] Chr4:15998411 [GRCh38]
Chr4:16000034 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2476G>C (p.Asp826His) single nucleotide variant Cone-rod dystrophy 12 [RCV001352997] Chr4:15980435 [GRCh38]
Chr4:15982058 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2513+3A>T single nucleotide variant not provided [RCV001298667] Chr4:15979878 [GRCh38]
Chr4:15981501 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1746T>G (p.Ser582Arg) single nucleotide variant not provided [RCV001301526] Chr4:15994008 [GRCh38]
Chr4:15995631 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1683-8T>A single nucleotide variant not provided [RCV001312039] Chr4:15994079 [GRCh38]
Chr4:15995702 [GRCh37]
Chr4:4p15.32
likely benign
NC_000004.11:g.(?_15964081)_(16172352_?)dup duplication not provided [RCV001324923] Chr4:15964081..16172352 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1611C>G (p.Asp537Glu) single nucleotide variant not provided [RCV001308630] Chr4:15998456 [GRCh38]
Chr4:16000079 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1378G>A (p.Val460Met) single nucleotide variant Inborn genetic diseases [RCV003263938]|not provided [RCV001307993] Chr4:16006614 [GRCh38]
Chr4:16008237 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.605G>T (p.Arg202Leu) single nucleotide variant not provided [RCV001319685] Chr4:16025217 [GRCh38]
Chr4:16026840 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.439C>T (p.Gln147Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV001330187] Chr4:16033374 [GRCh38]
Chr4:16034997 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2576T>A (p.Met859Lys) single nucleotide variant not provided [RCV001318165] Chr4:15979401 [GRCh38]
Chr4:15981024 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.835A>G (p.Ser279Gly) single nucleotide variant not provided [RCV001309434] Chr4:16018490 [GRCh38]
Chr4:16020113 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1184A>G (p.Asn395Ser) single nucleotide variant not provided [RCV001300040] Chr4:16009066 [GRCh38]
Chr4:16010689 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2555A>G (p.Tyr852Cys) single nucleotide variant not provided [RCV001307138] Chr4:15979422 [GRCh38]
Chr4:15981045 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1927G>A (p.Ala643Thr) single nucleotide variant not provided [RCV001340401] Chr4:15991278 [GRCh38]
Chr4:15992901 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1127C>T (p.Thr376Met) single nucleotide variant not provided [RCV001299825] Chr4:16013289 [GRCh38]
Chr4:16014912 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2272G>A (p.Glu758Lys) single nucleotide variant not provided [RCV001337452] Chr4:15985768 [GRCh38]
Chr4:15987391 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.572G>A (p.Arg191Gln) single nucleotide variant not provided [RCV001319351] Chr4:16025250 [GRCh38]
Chr4:16026873 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.950A>G (p.Asn317Ser) single nucleotide variant not provided [RCV001324781] Chr4:16018375 [GRCh38]
Chr4:16019998 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1663A>C (p.Thr555Pro) single nucleotide variant not provided [RCV001298540] Chr4:15998404 [GRCh38]
Chr4:16000027 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1784G>A (p.Ser595Asn) single nucleotide variant not provided [RCV001350589] Chr4:15992375 [GRCh38]
Chr4:15993998 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1454+4A>G single nucleotide variant not provided [RCV001316380] Chr4:16006534 [GRCh38]
Chr4:16008157 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2078G>A (p.Ser693Asn) single nucleotide variant not provided [RCV001297900] Chr4:15987715 [GRCh38]
Chr4:15989338 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2521A>G (p.Asn841Asp) single nucleotide variant not provided [RCV001327288] Chr4:15979456 [GRCh38]
Chr4:15981079 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1705A>C (p.Thr569Pro) single nucleotide variant not provided [RCV001351173] Chr4:15994049 [GRCh38]
Chr4:15995672 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.313T>C (p.Tyr105His) single nucleotide variant not provided [RCV001302710] Chr4:16033500 [GRCh38]
Chr4:16035123 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:69671-29702595)x3 copy number gain not provided [RCV001537928] Chr4:69671..29702595 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_006017.3(PROM1):c.2023C>T (p.Gln675Ter) single nucleotide variant Stargardt disease [RCV002466268]|not provided [RCV001383295] Chr4:15989785 [GRCh38]
Chr4:15991408 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1070T>A (p.Val357Asp) single nucleotide variant not provided [RCV001373125] Chr4:16016173 [GRCh38]
Chr4:16017796 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1697A>T (p.Asn566Ile) single nucleotide variant not provided [RCV001303100] Chr4:15994057 [GRCh38]
Chr4:15995680 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.380G>A (p.Gly127Glu) single nucleotide variant Cone-rod dystrophy 12 [RCV001353023] Chr4:16033433 [GRCh38]
Chr4:16035056 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.1344C>A (p.Ile448=) single nucleotide variant not provided [RCV001342269] Chr4:16006648 [GRCh38]
Chr4:16008271 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2281-7_2281-6delinsAG indel not provided [RCV001320287] Chr4:15984361..15984362 [GRCh38]
Chr4:15985984..15985985 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.880G>A (p.Val294Met) single nucleotide variant not provided [RCV001321966] Chr4:16018445 [GRCh38]
Chr4:16020068 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1578G>A (p.Arg526=) single nucleotide variant not provided [RCV001344948] Chr4:16000496 [GRCh38]
Chr4:16002119 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.203C>T (p.Pro68Leu) single nucleotide variant Inborn genetic diseases [RCV003355375]|not provided [RCV001305657] Chr4:16075704 [GRCh38]
Chr4:16077327 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.449A>G (p.Asn150Ser) single nucleotide variant Cone-rod dystrophy 12 [RCV001330188] Chr4:16033364 [GRCh38]
Chr4:16034987 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1616A>T (p.Glu539Val) single nucleotide variant not provided [RCV001347031] Chr4:15998451 [GRCh38]
Chr4:16000074 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2401G>A (p.Ala801Thr) single nucleotide variant not provided [RCV001306934] Chr4:15980510 [GRCh38]
Chr4:15982133 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2596T>G (p.Ter866Gly) single nucleotide variant not provided [RCV001347171] Chr4:15971069 [GRCh38]
Chr4:15972692 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1301+1G>A single nucleotide variant not provided [RCV002284632] Chr4:16008948 [GRCh38]
Chr4:16010571 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.2095G>A (p.Val699Ile) single nucleotide variant not provided [RCV001342581] Chr4:15987698 [GRCh38]
Chr4:15989321 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.559A>G (p.Ile187Val) single nucleotide variant not provided [RCV001302085] Chr4:16025263 [GRCh38]
Chr4:16026886 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1300T>C (p.Trp434Arg) single nucleotide variant not provided [RCV001346148] Chr4:16008950 [GRCh38]
Chr4:16010573 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1289A>C (p.Tyr430Ser) single nucleotide variant not provided [RCV001350584] Chr4:16008961 [GRCh38]
Chr4:16010584 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2099A>G (p.Lys700Arg) single nucleotide variant not provided [RCV001319293] Chr4:15987694 [GRCh38]
Chr4:15989317 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.475G>A (p.Ala159Thr) single nucleotide variant not provided [RCV001302254] Chr4:16033338 [GRCh38]
Chr4:16034961 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1196G>A (p.Arg399His) single nucleotide variant not provided [RCV001344246] Chr4:16009054 [GRCh38]
Chr4:16010677 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1077G>T (p.Gln359His) single nucleotide variant not provided [RCV001359441] Chr4:16016166 [GRCh38]
Chr4:16017789 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1151G>C (p.Arg384Thr) single nucleotide variant not provided [RCV001359481] Chr4:16009099 [GRCh38]
Chr4:16010722 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1927G>T (p.Ala643Ser) single nucleotide variant not provided [RCV001350395] Chr4:15991278 [GRCh38]
Chr4:15992901 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1718T>A (p.Leu573His) single nucleotide variant not provided [RCV001315100] Chr4:15994036 [GRCh38]
Chr4:15995659 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1589C>T (p.Thr530Ile) single nucleotide variant not provided [RCV001316154] Chr4:15998478 [GRCh38]
Chr4:16000101 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.645A>G (p.Ile215Met) single nucleotide variant Inborn genetic diseases [RCV003166825]|not provided [RCV001317327] Chr4:16024344 [GRCh38]
Chr4:16025967 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1834G>C (p.Ala612Pro) single nucleotide variant not provided [RCV001373086] Chr4:15992325 [GRCh38]
Chr4:15993948 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1385G>T (p.Gly462Val) single nucleotide variant not provided [RCV001963879] Chr4:16006607 [GRCh38]
Chr4:16008230 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.971G>A (p.Ser324Asn) single nucleotide variant not provided [RCV001364282] Chr4:16018354 [GRCh38]
Chr4:16019977 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1077+3A>T single nucleotide variant not provided [RCV001345533] Chr4:16016163 [GRCh38]
Chr4:16017786 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2516T>C (p.Met839Thr) single nucleotide variant not provided [RCV001301133] Chr4:15979461 [GRCh38]
Chr4:15981084 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1960C>G (p.Leu654Val) single nucleotide variant not provided [RCV001345599] Chr4:15991245 [GRCh38]
Chr4:15992868 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1435G>A (p.Gly479Arg) single nucleotide variant not provided [RCV001366257] Chr4:16006557 [GRCh38]
Chr4:16008180 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.356T>G (p.Phe119Cys) single nucleotide variant not provided [RCV001318327] Chr4:16033457 [GRCh38]
Chr4:16035080 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1002+20C>T single nucleotide variant not provided [RCV001412483] Chr4:16018303 [GRCh38]
Chr4:16019926 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.389T>C (p.Phe130Ser) single nucleotide variant not provided [RCV001366894] Chr4:16033424 [GRCh38]
Chr4:16035047 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2435C>T (p.Ala812Val) single nucleotide variant not provided [RCV001318558] Chr4:15980476 [GRCh38]
Chr4:15982099 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2181C>G (p.Ile727Met) single nucleotide variant not provided [RCV001300217] Chr4:15985987 [GRCh38]
Chr4:15987610 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.522C>G (p.Phe174Leu) single nucleotide variant not provided [RCV001368562] Chr4:16025300 [GRCh38]
Chr4:16026923 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1849A>C (p.Asn617His) single nucleotide variant not provided [RCV001367420] Chr4:15992310 [GRCh38]
Chr4:15993933 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.401G>C (p.Arg134Pro) single nucleotide variant not provided [RCV001358930] Chr4:16033412 [GRCh38]
Chr4:16035035 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.521T>C (p.Phe174Ser) single nucleotide variant not provided [RCV001365674] Chr4:16025301 [GRCh38]
Chr4:16026924 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2305A>T (p.Lys769Ter) single nucleotide variant not provided [RCV001389343] Chr4:15984331 [GRCh38]
Chr4:15985954 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.220+10G>A single nucleotide variant not provided [RCV001490326] Chr4:16075677 [GRCh38]
Chr4:16077300 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.784+2T>C single nucleotide variant not provided [RCV001377654] Chr4:16023324 [GRCh38]
Chr4:16024947 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.1995T>C (p.Asn665=) single nucleotide variant not provided [RCV001478395] Chr4:15989813 [GRCh38]
Chr4:15991436 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.984_985del (p.Ser328fs) deletion not provided [RCV001384691] Chr4:16018340..16018341 [GRCh38]
Chr4:16019963..16019964 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2199T>C (p.Ser733=) single nucleotide variant not provided [RCV001451361] Chr4:15985969 [GRCh38]
Chr4:15987592 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.400_401insTGTATTT (p.Arg134fs) insertion not provided [RCV001385185] Chr4:16033412..16033413 [GRCh38]
Chr4:16035035..16035036 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2458C>G (p.Arg820Gly) single nucleotide variant not provided [RCV001475285] Chr4:15980453 [GRCh38]
Chr4:15982076 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1560G>A (p.Thr520=) single nucleotide variant not provided [RCV001479737] Chr4:16000514 [GRCh38]
Chr4:16002137 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.221-5del deletion not provided [RCV001519669] Chr4:16039006 [GRCh38]
Chr4:16040629 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2489+7A>G single nucleotide variant not provided [RCV001400017] Chr4:15980415 [GRCh38]
Chr4:15982038 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1077+17A>T single nucleotide variant not provided [RCV001491284] Chr4:16016149 [GRCh38]
Chr4:16017772 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2151A>G (p.Leu717=) single nucleotide variant not provided [RCV001474054] Chr4:15986017 [GRCh38]
Chr4:15987640 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1302-4C>T single nucleotide variant not provided [RCV001425887] Chr4:16006694 [GRCh38]
Chr4:16008317 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.18C>A (p.Gly6=) single nucleotide variant not provided [RCV001503940] Chr4:16075889 [GRCh38]
Chr4:16077512 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2115A>G (p.Thr705=) single nucleotide variant not provided [RCV001429501] Chr4:15987678 [GRCh38]
Chr4:15989301 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.630+19A>G single nucleotide variant not provided [RCV001461157] Chr4:16025173 [GRCh38]
Chr4:16026796 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2281-23T>G single nucleotide variant not provided [RCV001519115] Chr4:15984378 [GRCh38]
Chr4:15986001 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.277-5T>A single nucleotide variant not provided [RCV001432622] Chr4:16035766 [GRCh38]
Chr4:16037389 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2085A>G (p.Leu695=) single nucleotide variant not provided [RCV001407164] Chr4:15987708 [GRCh38]
Chr4:15989331 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1330C>T (p.Leu444=) single nucleotide variant not provided [RCV001409515] Chr4:16006662 [GRCh38]
Chr4:16008285 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.220+2T>A single nucleotide variant not provided [RCV001377841] Chr4:16075685 [GRCh38]
Chr4:16077308 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.2329dup (p.Thr777fs) duplication not provided [RCV001389543] Chr4:15984306..15984307 [GRCh38]
Chr4:15985929..15985930 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2215del (p.Thr739fs) deletion not provided [RCV001388358] Chr4:15985825 [GRCh38]
Chr4:15987448 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1912A>G (p.Thr638Ala) single nucleotide variant not provided [RCV001410027] Chr4:15991293 [GRCh38]
Chr4:15992916 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.785-18C>T single nucleotide variant not provided [RCV001446887] Chr4:16018558 [GRCh38]
Chr4:16020181 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.967C>T (p.Leu323=) single nucleotide variant not provided [RCV001449451] Chr4:16018358 [GRCh38]
Chr4:16019981 [GRCh37]
Chr4:4p15.32
likely benign
NC_000004.11:g.(?_16034907)_(16037404_?)del deletion not provided [RCV001390051] Chr4:16034907..16037404 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2130+1G>C single nucleotide variant not provided [RCV001379295] Chr4:15987662 [GRCh38]
Chr4:15989285 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2043C>T (p.His681=) single nucleotide variant not provided [RCV001416059] Chr4:15989765 [GRCh38]
Chr4:15991388 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2198_2199del (p.Ser733fs) microsatellite not provided [RCV001388682] Chr4:15985969..15985970 [GRCh38]
Chr4:15987592..15987593 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2481G>A (p.Val827=) single nucleotide variant not provided [RCV001442001] Chr4:15980430 [GRCh38]
Chr4:15982053 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.477A>G (p.Ala159=) single nucleotide variant not provided [RCV001408111] Chr4:16033336 [GRCh38]
Chr4:16034959 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.108G>A (p.Leu36=) single nucleotide variant not provided [RCV001403930] Chr4:16075799 [GRCh38]
Chr4:16077422 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1683-14G>A single nucleotide variant not provided [RCV001402686] Chr4:15994085 [GRCh38]
Chr4:15995708 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.303+15T>G single nucleotide variant not provided [RCV001404030] Chr4:16035720 [GRCh38]
Chr4:16037343 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.695-16G>C single nucleotide variant not provided [RCV001401801] Chr4:16023431 [GRCh38]
Chr4:16025054 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.509+8C>T single nucleotide variant not provided [RCV001457632] Chr4:16033296 [GRCh38]
Chr4:16034919 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.808T>C (p.Leu270=) single nucleotide variant not provided [RCV001495501] Chr4:16018517 [GRCh38]
Chr4:16020140 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.963G>A (p.Leu321=) single nucleotide variant not provided [RCV001465504] Chr4:16018362 [GRCh38]
Chr4:16019985 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2131-17G>C single nucleotide variant not provided [RCV001519874] Chr4:15986054 [GRCh38]
Chr4:15987677 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1003-35A>C single nucleotide variant Cone-rod dystrophy 12 [RCV001789502]|Retinal macular dystrophy type 2 [RCV001789501]|Retinitis pigmentosa 41 [RCV001789499]|Stargardt disease 4 [RCV001789500]|not provided [RCV001674013] Chr4:16016275 [GRCh38]
Chr4:16017898 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.509+9_509+10del deletion not provided [RCV001503536] Chr4:16033294..16033295 [GRCh38]
Chr4:16034917..16034918 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2280+49T>C single nucleotide variant not provided [RCV001686398] Chr4:15985711 [GRCh38]
Chr4:15987334 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1263C>T (p.His421=) single nucleotide variant not provided [RCV001453118] Chr4:16008987 [GRCh38]
Chr4:16010610 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1926C>T (p.Pro642=) single nucleotide variant not provided [RCV001471310] Chr4:15991279 [GRCh38]
Chr4:15992902 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.807G>A (p.Ala269=) single nucleotide variant not provided [RCV001478005] Chr4:16018518 [GRCh38]
Chr4:16020141 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1142-17G>T single nucleotide variant not provided [RCV001513507] Chr4:16009125 [GRCh38]
Chr4:16010748 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1767+92G>A single nucleotide variant not provided [RCV001674555] Chr4:15993895 [GRCh38]
Chr4:15995518 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.540T>C (p.Asn180=) single nucleotide variant not provided [RCV001502941] Chr4:16025282 [GRCh38]
Chr4:16026905 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1579-16del deletion not provided [RCV001495185] Chr4:15998504 [GRCh38]
Chr4:16000127 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2476del (p.Asp826fs) deletion not provided [RCV001384986] Chr4:15980435 [GRCh38]
Chr4:15982058 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2281-4del deletion not provided [RCV001509943] Chr4:15984359 [GRCh38]
Chr4:15985982 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2130+15T>C single nucleotide variant not provided [RCV001497430] Chr4:15987648 [GRCh38]
Chr4:15989271 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2253A>G (p.Glu751=) single nucleotide variant not provided [RCV001452918] Chr4:15985787 [GRCh38]
Chr4:15987410 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2513+19A>G single nucleotide variant not provided [RCV001461583] Chr4:15979862 [GRCh38]
Chr4:15981485 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2454C>T (p.Tyr818=) single nucleotide variant not provided [RCV001513817] Chr4:15980457 [GRCh38]
Chr4:15982080 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2238A>T (p.Ile746=) single nucleotide variant not provided [RCV001478401] Chr4:15985802 [GRCh38]
Chr4:15987425 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1984-10C>G single nucleotide variant not provided [RCV001484996] Chr4:15989834 [GRCh38]
Chr4:15991457 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2374-16G>A single nucleotide variant not provided [RCV001513506] Chr4:15980553 [GRCh38]
Chr4:15982176 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2484C>T (p.Tyr828=) single nucleotide variant not provided [RCV001434396] Chr4:15980427 [GRCh38]
Chr4:15982050 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2280+8G>A single nucleotide variant not provided [RCV001466123] Chr4:15985752 [GRCh38]
Chr4:15987375 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2514-12T>C single nucleotide variant not provided [RCV001423698] Chr4:15979475 [GRCh38]
Chr4:15981098 [GRCh37]
Chr4:4p15.32
likely benign
NC_000004.11:g.(?_16034927)_(16050534_?)dup duplication not provided [RCV001378352] Chr4:16034927..16050534 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.349C>T (p.Leu117=) single nucleotide variant not provided [RCV001461595] Chr4:16033464 [GRCh38]
Chr4:16035087 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2358C>T (p.Tyr786=) single nucleotide variant not provided [RCV001515341] Chr4:15984278 [GRCh38]
Chr4:15985901 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1301+10_1301+11delinsAA indel not provided [RCV001416363] Chr4:16008938..16008939 [GRCh38]
Chr4:16010561..16010562 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1141+11_1141+12del microsatellite not provided [RCV001497021] Chr4:16013263..16013264 [GRCh38]
Chr4:16014886..16014887 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2196del (p.Ser733fs) deletion not provided [RCV001384538] Chr4:15985972 [GRCh38]
Chr4:15987595 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.781A>G (p.Thr261Ala) single nucleotide variant not provided [RCV003105159] Chr4:16023329 [GRCh38]
Chr4:16024952 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.958A>G (p.Arg320Gly) single nucleotide variant not provided [RCV001755584] Chr4:16018367 [GRCh38]
Chr4:16019990 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.695G>T (p.Ser232Ile) single nucleotide variant not provided [RCV001759025] Chr4:16023415 [GRCh38]
Chr4:16025038 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.599A>G (p.Asp200Gly) single nucleotide variant not provided [RCV001768338] Chr4:16025223 [GRCh38]
Chr4:16026846 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.818T>A (p.Met273Lys) single nucleotide variant not provided [RCV001769830] Chr4:16018507 [GRCh38]
Chr4:16020130 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1302G>A (p.Trp434Ter) single nucleotide variant not provided [RCV001795530] Chr4:16006690 [GRCh38]
Chr4:16008313 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2490-84del deletion not provided [RCV001733453] Chr4:15979988 [GRCh38]
Chr4:15981611 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.1739A>G (p.Asn580Ser) single nucleotide variant not provided [RCV001757806] Chr4:15994015 [GRCh38]
Chr4:15995638 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.276+2T>C single nucleotide variant Retinitis pigmentosa 41 [RCV001808139] Chr4:16038944 [GRCh38]
Chr4:16040567 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.401G>A (p.Arg134His) single nucleotide variant not provided [RCV001863469] Chr4:16033412 [GRCh38]
Chr4:16035035 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.179A>G (p.His60Arg) single nucleotide variant not provided [RCV001929737] Chr4:16075728 [GRCh38]
Chr4:16077351 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1150A>G (p.Arg384Gly) single nucleotide variant not provided [RCV001929918] Chr4:16009100 [GRCh38]
Chr4:16010723 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.116C>A (p.Thr39Lys) single nucleotide variant not provided [RCV001896241] Chr4:16075791 [GRCh38]
Chr4:16077414 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2296G>A (p.Ala766Thr) single nucleotide variant not provided [RCV001971411] Chr4:15984340 [GRCh38]
Chr4:15985963 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2515A>G (p.Met839Val) single nucleotide variant not provided [RCV002005010] Chr4:15979462 [GRCh38]
Chr4:15981085 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2593C>A (p.His865Asn) single nucleotide variant not provided [RCV001915216] Chr4:15971072 [GRCh38]
Chr4:15972695 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.268T>A (p.Tyr90Asn) single nucleotide variant Inborn genetic diseases [RCV002563481]|not provided [RCV001987984] Chr4:16038954 [GRCh38]
Chr4:16040577 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1559C>T (p.Thr520Met) single nucleotide variant not provided [RCV001987048] Chr4:16000515 [GRCh38]
Chr4:16002138 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1939C>T (p.Leu647Phe) single nucleotide variant not provided [RCV002002732] Chr4:15991266 [GRCh38]
Chr4:15992889 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1163C>A (p.Ser388Tyr) single nucleotide variant not provided [RCV002044326] Chr4:16009087 [GRCh38]
Chr4:16010710 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.220+1G>C single nucleotide variant not provided [RCV002044375] Chr4:16075686 [GRCh38]
Chr4:16077309 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic
NM_006017.3(PROM1):c.908A>G (p.Asn303Ser) single nucleotide variant not provided [RCV001913380] Chr4:16018417 [GRCh38]
Chr4:16020040 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.199C>G (p.Gln67Glu) single nucleotide variant not provided [RCV002025196] Chr4:16075708 [GRCh38]
Chr4:16077331 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2458C>T (p.Arg820Cys) single nucleotide variant not provided [RCV001971184] Chr4:15980453 [GRCh38]
Chr4:15982076 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.442A>T (p.Lys148Ter) single nucleotide variant not provided [RCV001949537] Chr4:16033371 [GRCh38]
Chr4:16034994 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2062A>G (p.Ile688Val) single nucleotide variant not provided [RCV001896873] Chr4:15989746 [GRCh38]
Chr4:15991369 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2408T>C (p.Val803Ala) single nucleotide variant not provided [RCV001965179] Chr4:15980503 [GRCh38]
Chr4:15982126 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.406T>A (p.Cys136Ser) single nucleotide variant not provided [RCV002006409] Chr4:16033407 [GRCh38]
Chr4:16035030 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1085A>G (p.Gln362Arg) single nucleotide variant not provided [RCV002023110] Chr4:16013331 [GRCh38]
Chr4:16014954 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.895C>T (p.Arg299Trp) single nucleotide variant Inborn genetic diseases [RCV003264138]|not provided [RCV001872260] Chr4:16018430 [GRCh38]
Chr4:16020053 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.743A>G (p.Asn248Ser) single nucleotide variant not provided [RCV002039636] Chr4:16023367 [GRCh38]
Chr4:16024990 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1697A>G (p.Asn566Ser) single nucleotide variant not provided [RCV001890884] Chr4:15994057 [GRCh38]
Chr4:15995680 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.557G>A (p.Arg186Gln) single nucleotide variant not provided [RCV002021374] Chr4:16025265 [GRCh38]
Chr4:16026888 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1204A>C (p.Ile402Leu) single nucleotide variant not provided [RCV002023594] Chr4:16009046 [GRCh38]
Chr4:16010669 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1533G>A (p.Val511=) single nucleotide variant not provided [RCV001913904] Chr4:16000541 [GRCh38]
Chr4:16002164 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15972690)_(16077529_?)del deletion not provided [RCV001970204] Chr4:15972690..16077529 [GRCh37]
Chr4:4p15.32
pathogenic
NC_000004.11:g.(?_16077290)_(16077529_?)del deletion not provided [RCV001970205] Chr4:16077290..16077529 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2296G>T (p.Ala766Ser) single nucleotide variant not provided [RCV001983381] Chr4:15984340 [GRCh38]
Chr4:15985963 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1603A>C (p.Asn535His) single nucleotide variant not provided [RCV001966838] Chr4:15998464 [GRCh38]
Chr4:16000087 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1767+1G>A single nucleotide variant not provided [RCV002039254] Chr4:15993986 [GRCh38]
Chr4:15995609 [GRCh37]
Chr4:4p15.32
likely pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20587167)x1 copy number loss not provided [RCV001829146] Chr4:68345..20587167 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.1-15.32(chr4:9577432-16223471)x3 copy number gain not provided [RCV001834299] Chr4:9577432..16223471 [GRCh37]
Chr4:4p16.1-15.32
likely pathogenic
NM_006017.3(PROM1):c.83C>T (p.Ala28Val) single nucleotide variant not provided [RCV001893786] Chr4:16075824 [GRCh38]
Chr4:16077447 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.152C>T (p.Pro51Leu) single nucleotide variant not provided [RCV002023071] Chr4:16075755 [GRCh38]
Chr4:16077378 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.133G>A (p.Asp45Asn) single nucleotide variant not provided [RCV002023758] Chr4:16075774 [GRCh38]
Chr4:16077397 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2373+5G>T single nucleotide variant not provided [RCV001927785] Chr4:15984258 [GRCh38]
Chr4:15985881 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.307G>T (p.Val103Phe) single nucleotide variant not provided [RCV002001889] Chr4:16033506 [GRCh38]
Chr4:16035129 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1287G>C (p.Glu429Asp) single nucleotide variant not provided [RCV001889871] Chr4:16008963 [GRCh38]
Chr4:16010586 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2130G>A (p.Leu710=) single nucleotide variant not provided [RCV002020387] Chr4:15987663 [GRCh38]
Chr4:15989286 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.806C>T (p.Ala269Val) single nucleotide variant not provided [RCV002020805] Chr4:16018519 [GRCh38]
Chr4:16020142 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1441G>T (p.Val481Phe) single nucleotide variant not provided [RCV001887364] Chr4:16006551 [GRCh38]
Chr4:16008174 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1022A>G (p.Glu341Gly) single nucleotide variant not provided [RCV002000341] Chr4:16016221 [GRCh38]
Chr4:16017844 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.896G>A (p.Arg299Gln) single nucleotide variant not provided [RCV001944400] Chr4:16018429 [GRCh38]
Chr4:16020052 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1052C>T (p.Thr351Ile) single nucleotide variant not provided [RCV001878906] Chr4:16016191 [GRCh38]
Chr4:16017814 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1189A>C (p.Thr397Pro) single nucleotide variant not provided [RCV001940975] Chr4:16009061 [GRCh38]
Chr4:16010684 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.124G>A (p.Glu42Lys) single nucleotide variant not provided [RCV001963385] Chr4:16075783 [GRCh38]
Chr4:16077406 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1525G>A (p.Ala509Thr) single nucleotide variant not provided [RCV001999598] Chr4:16000549 [GRCh38]
Chr4:16002172 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15993851)_(15995714_?)del deletion not provided [RCV001884100] Chr4:15993851..15995714 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1105G>A (p.Asp369Asn) single nucleotide variant not provided [RCV002019544] Chr4:16013311 [GRCh38]
Chr4:16014934 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.754del (p.Val252fs) deletion not provided [RCV001979040] Chr4:16023356 [GRCh38]
Chr4:16024979 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1282dup (p.Glu428fs) duplication not provided [RCV001999843] Chr4:16008967..16008968 [GRCh38]
Chr4:16010590..16010591 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1002G>A (p.Gln334=) single nucleotide variant not provided [RCV001943418] Chr4:16018323 [GRCh38]
Chr4:16019946 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1712G>A (p.Gly571Asp) single nucleotide variant not provided [RCV001996313] Chr4:15994042 [GRCh38]
Chr4:15995665 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1946C>A (p.Ser649Ter) single nucleotide variant not provided [RCV002035347] Chr4:15991259 [GRCh38]
Chr4:15992882 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1615G>A (p.Glu539Lys) single nucleotide variant not provided [RCV001960770] Chr4:15998452 [GRCh38]
Chr4:16000075 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.631C>T (p.Gln211Ter) single nucleotide variant not provided [RCV001993253] Chr4:16024358 [GRCh38]
Chr4:16025981 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.205C>T (p.Arg69Cys) single nucleotide variant not provided [RCV001888346] Chr4:16075702 [GRCh38]
Chr4:16077325 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1301G>A (p.Trp434Ter) single nucleotide variant not provided [RCV002000216] Chr4:16008949 [GRCh38]
Chr4:16010572 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.478A>G (p.Ile160Val) single nucleotide variant not provided [RCV001993418] Chr4:16033335 [GRCh38]
Chr4:16034958 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1074_1076dup (p.Gln359dup) duplication not provided [RCV001942607] Chr4:16016166..16016167 [GRCh38]
Chr4:16017789..16017790 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1645_1648del (p.Lys549fs) deletion not provided [RCV001975075] Chr4:15998419..15998422 [GRCh38]
Chr4:16000042..16000045 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1591C>T (p.Pro531Ser) single nucleotide variant not provided [RCV001954184] Chr4:15998476 [GRCh38]
Chr4:16000099 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1569A>C (p.Glu523Asp) single nucleotide variant not provided [RCV001933579] Chr4:16000505 [GRCh38]
Chr4:16002128 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.392G>T (p.Cys131Phe) single nucleotide variant not provided [RCV001993579] Chr4:16033421 [GRCh38]
Chr4:16035044 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1178T>G (p.Ile393Ser) single nucleotide variant not provided [RCV002030582] Chr4:16009072 [GRCh38]
Chr4:16010695 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1760T>C (p.Ile587Thr) single nucleotide variant not provided [RCV001921745] Chr4:15993994 [GRCh38]
Chr4:15995617 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1450A>G (p.Met484Val) single nucleotide variant Stargardt disease 4 [RCV002486592]|not provided [RCV002028275] Chr4:16006542 [GRCh38]
Chr4:16008165 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_16017769)_(16017883_?)del deletion not provided [RCV001920642] Chr4:16017769..16017883 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2049A>T (p.Gln683His) single nucleotide variant not provided [RCV002031097] Chr4:15989759 [GRCh38]
Chr4:15991382 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1135G>A (p.Val379Ile) single nucleotide variant not provided [RCV002015668] Chr4:16013281 [GRCh38]
Chr4:16014904 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.221-20T>G single nucleotide variant not provided [RCV001922504] Chr4:16039021 [GRCh38]
Chr4:16040644 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2421G>A (p.Pro807=) single nucleotide variant not provided [RCV001952171] Chr4:15980490 [GRCh38]
Chr4:15982113 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.314A>G (p.Tyr105Cys) single nucleotide variant not provided [RCV001932845] Chr4:16033499 [GRCh38]
Chr4:16035122 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.848A>G (p.Gln283Arg) single nucleotide variant not provided [RCV001932892] Chr4:16018477 [GRCh38]
Chr4:16020100 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.262A>T (p.Ile88Phe) single nucleotide variant not provided [RCV001901089] Chr4:16038960 [GRCh38]
Chr4:16040583 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1906G>T (p.Ala636Ser) single nucleotide variant not provided [RCV001931664] Chr4:15992253 [GRCh38]
Chr4:15993876 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.789C>G (p.Ile263Met) single nucleotide variant not provided [RCV001937282] Chr4:16018536 [GRCh38]
Chr4:16020159 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2092A>G (p.Ser698Gly) single nucleotide variant not provided [RCV001973439] Chr4:15987701 [GRCh38]
Chr4:15989324 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1406C>T (p.Pro469Leu) single nucleotide variant not provided [RCV001937293] Chr4:16006586 [GRCh38]
Chr4:16008209 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.444G>A (p.Lys148=) single nucleotide variant not provided [RCV001973597] Chr4:16033369 [GRCh38]
Chr4:16034992 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1526C>A (p.Ala509Glu) single nucleotide variant not provided [RCV001934419] Chr4:16000548 [GRCh38]
Chr4:16002171 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp) single nucleotide variant Stargardt disease [RCV002466272]|not provided [RCV001866864] Chr4:16006568 [GRCh38]
Chr4:16008191 [GRCh37]
Chr4:4p15.32
pathogenic|likely pathogenic|uncertain significance
NM_006017.3(PROM1):c.220+6T>G single nucleotide variant not provided [RCV002046417] Chr4:16075681 [GRCh38]
Chr4:16077304 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1327T>C (p.Ser443Pro) single nucleotide variant not provided [RCV001878413] Chr4:16006665 [GRCh38]
Chr4:16008288 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.970A>G (p.Ser324Gly) single nucleotide variant not provided [RCV002049017] Chr4:16018355 [GRCh38]
Chr4:16019978 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.695-11T>G single nucleotide variant not provided [RCV001998754] Chr4:16023426 [GRCh38]
Chr4:16025049 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1276A>G (p.Thr426Ala) single nucleotide variant not provided [RCV002019996] Chr4:16008974 [GRCh38]
Chr4:16010597 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1648_1651del (p.Ser550fs) deletion not provided [RCV001932469] Chr4:15998416..15998419 [GRCh38]
Chr4:16000039..16000042 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1486A>G (p.Ile496Val) single nucleotide variant not provided [RCV001905806] Chr4:16000588 [GRCh38]
Chr4:16002211 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1953A>G (p.Ala651=) single nucleotide variant not provided [RCV001932566] Chr4:15991252 [GRCh38]
Chr4:15992875 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.425A>G (p.Glu142Gly) single nucleotide variant not provided [RCV001935442] Chr4:16033388 [GRCh38]
Chr4:16035011 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.370C>G (p.Pro124Ala) single nucleotide variant not provided [RCV001898295] Chr4:16033443 [GRCh38]
Chr4:16035066 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1423_1424del (p.Val475fs) microsatellite not provided [RCV002047188] Chr4:16006568..16006569 [GRCh38]
Chr4:16008191..16008192 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.221-1_223dup duplication not provided [RCV001995032] Chr4:16038998..16038999 [GRCh38]
Chr4:16040621..16040622 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.673A>C (p.Lys225Gln) single nucleotide variant not provided [RCV001958032] Chr4:16024316 [GRCh38]
Chr4:16025939 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2136A>G (p.Arg712=) single nucleotide variant not provided [RCV001959383] Chr4:15986032 [GRCh38]
Chr4:15987655 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1887_1890del (p.Met629fs) microsatellite not provided [RCV001974695] Chr4:15992269..15992272 [GRCh38]
Chr4:15993892..15993895 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1660C>G (p.Leu554Val) single nucleotide variant not provided [RCV001960036] Chr4:15998407 [GRCh38]
Chr4:16000030 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1579-3T>G single nucleotide variant Stargardt disease [RCV002466273]|not provided [RCV001906702] Chr4:15998491 [GRCh38]
Chr4:16000114 [GRCh37]
Chr4:4p15.32
pathogenic|uncertain significance
NM_006017.3(PROM1):c.785-17G>A single nucleotide variant not provided [RCV002011228] Chr4:16018557 [GRCh38]
Chr4:16020180 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.386dup (p.Phe130fs) duplication not provided [RCV001935709] Chr4:16033426..16033427 [GRCh38]
Chr4:16035049..16035050 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1033G>A (p.Val345Ile) single nucleotide variant not provided [RCV001982118] Chr4:16016210 [GRCh38]
Chr4:16017833 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15985866)_(15986004_?)del deletion not provided [RCV001997457] Chr4:15985866..15986004 [GRCh37]
Chr4:4p15.32
likely pathogenic|uncertain significance
NM_006017.3(PROM1):c.1711G>A (p.Gly571Ser) single nucleotide variant not provided [RCV002050345] Chr4:15994043 [GRCh38]
Chr4:15995666 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15985866)_(15989359_?)del deletion not provided [RCV001996870] Chr4:15985866..15989359 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.245A>G (p.Lys82Arg) single nucleotide variant not provided [RCV001960781] Chr4:16038977 [GRCh38]
Chr4:16040600 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1922C>T (p.Ser641Phe) single nucleotide variant not provided [RCV001905053] Chr4:15991283 [GRCh38]
Chr4:15992906 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.414A>T (p.Lys138Asn) single nucleotide variant not provided [RCV001884698] Chr4:16033399 [GRCh38]
Chr4:16035022 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2104C>G (p.Leu702Val) single nucleotide variant not provided [RCV002019606] Chr4:15987689 [GRCh38]
Chr4:15989312 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2280+1G>A single nucleotide variant not provided [RCV001998124] Chr4:15985759 [GRCh38]
Chr4:15987382 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.1789G>A (p.Glu597Lys) single nucleotide variant not provided [RCV001981258] Chr4:15992370 [GRCh38]
Chr4:15993993 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2258A>G (p.Tyr753Cys) single nucleotide variant not provided [RCV001939945] Chr4:15985782 [GRCh38]
Chr4:15987405 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.751C>G (p.Pro251Ala) single nucleotide variant not provided [RCV002046975] Chr4:16023359 [GRCh38]
Chr4:16024982 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1042G>A (p.Val348Ile) single nucleotide variant Inborn genetic diseases [RCV002549001]|not provided [RCV002027963] Chr4:16016201 [GRCh38]
Chr4:16017824 [GRCh37]
Chr4:4p15.32
likely benign|uncertain significance
NM_006017.3(PROM1):c.2198C>T (p.Ser733Phe) single nucleotide variant not provided [RCV001991615] Chr4:15985970 [GRCh38]
Chr4:15987593 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15477557)_(16020183_?)del deletion Joubert syndrome [RCV001958571] Chr4:15477557..16020183 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1651A>G (p.Lys551Glu) single nucleotide variant not provided [RCV002027084] Chr4:15998416 [GRCh38]
Chr4:16000039 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2384G>T (p.Trp795Leu) single nucleotide variant not provided [RCV001990087] Chr4:15980527 [GRCh38]
Chr4:15982150 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1768C>T (p.His590Tyr) single nucleotide variant not provided [RCV001916931] Chr4:15992391 [GRCh38]
Chr4:15994014 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.9C>T (p.Leu3=) single nucleotide variant not provided [RCV001956699] Chr4:16075898 [GRCh38]
Chr4:16077521 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1405C>A (p.Pro469Thr) single nucleotide variant not provided [RCV002010730] Chr4:16006587 [GRCh38]
Chr4:16008210 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2213A>C (p.Glu738Ala) single nucleotide variant not provided [RCV001979335] Chr4:15985827 [GRCh38]
Chr4:15987450 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.605G>A (p.Arg202Gln) single nucleotide variant not provided [RCV001921944] Chr4:16025217 [GRCh38]
Chr4:16026840 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.505A>G (p.Ile169Val) single nucleotide variant not provided [RCV001900432] Chr4:16033308 [GRCh38]
Chr4:16034931 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.361A>T (p.Ile121Phe) single nucleotide variant not provided [RCV002049362] Chr4:16033452 [GRCh38]
Chr4:16035075 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.642T>C (p.Tyr214=) single nucleotide variant not provided [RCV001956048] Chr4:16024347 [GRCh38]
Chr4:16025970 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.532G>A (p.Val178Met) single nucleotide variant not provided [RCV001995055] Chr4:16025290 [GRCh38]
Chr4:16026913 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1147A>G (p.Lys383Glu) single nucleotide variant not provided [RCV001979379] Chr4:16009103 [GRCh38]
Chr4:16010726 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.10G>A (p.Val4Ile) single nucleotide variant not provided [RCV001978293] Chr4:16075897 [GRCh38]
Chr4:16077520 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2212-4C>G single nucleotide variant not provided [RCV002188608] Chr4:15985832 [GRCh38]
Chr4:15987455 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1983+18G>A single nucleotide variant not provided [RCV002128609] Chr4:15991204 [GRCh38]
Chr4:15992827 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.756T>A (p.Val252=) single nucleotide variant not provided [RCV002168657] Chr4:16023354 [GRCh38]
Chr4:16024977 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.111T>A (p.Pro37=) single nucleotide variant not provided [RCV002087503] Chr4:16075796 [GRCh38]
Chr4:16077419 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2374-13T>A single nucleotide variant not provided [RCV002209002] Chr4:15980550 [GRCh38]
Chr4:15982173 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1392C>T (p.Asp464=) single nucleotide variant not provided [RCV002165558] Chr4:16006600 [GRCh38]
Chr4:16008223 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.694+20_694+21del deletion not provided [RCV002110918] Chr4:16024274..16024275 [GRCh38]
Chr4:16025897..16025898 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.276+11A>G single nucleotide variant not provided [RCV002165487] Chr4:16038935 [GRCh38]
Chr4:16040558 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.784+14A>G single nucleotide variant not provided [RCV002189598] Chr4:16023312 [GRCh38]
Chr4:16024935 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2281-16G>A single nucleotide variant not provided [RCV002209530] Chr4:15984371 [GRCh38]
Chr4:15985994 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1179C>T (p.Ile393=) single nucleotide variant not provided [RCV002091216] Chr4:16009071 [GRCh38]
Chr4:16010694 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1077+15A>G single nucleotide variant not provided [RCV002223607] Chr4:16016151 [GRCh38]
Chr4:16017774 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2489+9G>A single nucleotide variant not provided [RCV002187393] Chr4:15980413 [GRCh38]
Chr4:15982036 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.695-10T>G single nucleotide variant not provided [RCV002188184] Chr4:16023425 [GRCh38]
Chr4:16025048 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2281-10A>G single nucleotide variant not provided [RCV002127537] Chr4:15984365 [GRCh38]
Chr4:15985988 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2076+12C>T single nucleotide variant not provided [RCV002085023] Chr4:15989720 [GRCh38]
Chr4:15991343 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1386C>T (p.Gly462=) single nucleotide variant not provided [RCV002148588] Chr4:16006606 [GRCh38]
Chr4:16008229 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1003-11T>C single nucleotide variant not provided [RCV002146727] Chr4:16016251 [GRCh38]
Chr4:16017874 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2212-16T>G single nucleotide variant not provided [RCV002166552] Chr4:15985844 [GRCh38]
Chr4:15987467 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.177G>C (p.Val59=) single nucleotide variant not provided [RCV002073870] Chr4:16075730 [GRCh38]
Chr4:16077353 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2280+19A>G single nucleotide variant not provided [RCV002207549] Chr4:15985741 [GRCh38]
Chr4:15987364 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.630+10A>G single nucleotide variant not provided [RCV002088130] Chr4:16025182 [GRCh38]
Chr4:16026805 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.15C>G (p.Leu5=) single nucleotide variant not provided [RCV002187702] Chr4:16075892 [GRCh38]
Chr4:16077515 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1578+7A>G single nucleotide variant not provided [RCV002080067] Chr4:16000489 [GRCh38]
Chr4:16002112 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2281-22C>G single nucleotide variant not provided [RCV002153674] Chr4:15984377 [GRCh38]
Chr4:15986000 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2489+13G>A single nucleotide variant not provided [RCV002152445] Chr4:15980409 [GRCh38]
Chr4:15982032 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.891C>T (p.Ser297=) single nucleotide variant not provided [RCV002135131] Chr4:16018434 [GRCh38]
Chr4:16020057 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1767+18T>C single nucleotide variant not provided [RCV002134404] Chr4:15993969 [GRCh38]
Chr4:15995592 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.277-14G>A single nucleotide variant not provided [RCV002134390] Chr4:16035775 [GRCh38]
Chr4:16037398 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.888T>A (p.Thr296=) single nucleotide variant not provided [RCV002146177] Chr4:16018437 [GRCh38]
Chr4:16020060 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1078-16T>C single nucleotide variant not provided [RCV002170390] Chr4:16013354 [GRCh38]
Chr4:16014977 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.510-20C>T single nucleotide variant not provided [RCV002191927] Chr4:16025332 [GRCh38]
Chr4:16026955 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1047T>C (p.Leu349=) single nucleotide variant not provided [RCV002079143] Chr4:16016196 [GRCh38]
Chr4:16017819 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.6C>G (p.Ala2=) single nucleotide variant not provided [RCV002153779] Chr4:16075901 [GRCh38]
Chr4:16077524 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1041C>T (p.Asn347=) single nucleotide variant not provided [RCV002150138] Chr4:16016202 [GRCh38]
Chr4:16017825 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2076+17T>C single nucleotide variant not provided [RCV002146595] Chr4:15989715 [GRCh38]
Chr4:15991338 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1984-14T>C single nucleotide variant not provided [RCV002171177] Chr4:15989838 [GRCh38]
Chr4:15991461 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2130+15dup duplication not provided [RCV002193880] Chr4:15987647..15987648 [GRCh38]
Chr4:15989270..15989271 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.277-14G>T single nucleotide variant not provided [RCV002194609] Chr4:16035775 [GRCh38]
Chr4:16037398 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1962A>G (p.Leu654=) single nucleotide variant not provided [RCV002196490] Chr4:15991243 [GRCh38]
Chr4:15992866 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1768-16C>T single nucleotide variant not provided [RCV002133744] Chr4:15992407 [GRCh38]
Chr4:15994030 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.631-17G>A single nucleotide variant not provided [RCV002092770] Chr4:16024375 [GRCh38]
Chr4:16025998 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1716T>C (p.Thr572=) single nucleotide variant not provided [RCV002077706] Chr4:15994038 [GRCh38]
Chr4:15995661 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2478C>T (p.Asp826=) single nucleotide variant not provided [RCV002076527] Chr4:15980433 [GRCh38]
Chr4:15982056 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1182C>T (p.Asp394=) single nucleotide variant not provided [RCV002169458] Chr4:16009068 [GRCh38]
Chr4:16010691 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1596C>T (p.Tyr532=) single nucleotide variant not provided [RCV002212232] Chr4:15998471 [GRCh38]
Chr4:16000094 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.509+13T>C single nucleotide variant not provided [RCV002166402] Chr4:16033291 [GRCh38]
Chr4:16034914 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2076+16G>T single nucleotide variant not provided [RCV002150709] Chr4:15989716 [GRCh38]
Chr4:15991339 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1983+17C>T single nucleotide variant not provided [RCV002131208] Chr4:15991205 [GRCh38]
Chr4:15992828 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2131-16_2131-15del microsatellite not provided [RCV002159768] Chr4:15986052..15986053 [GRCh38]
Chr4:15987675..15987676 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2281-8C>T single nucleotide variant not provided [RCV002135652] Chr4:15984363 [GRCh38]
Chr4:15985986 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1301+11C>T single nucleotide variant not provided [RCV002135666] Chr4:16008938 [GRCh38]
Chr4:16010561 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.876C>A (p.Thr292=) single nucleotide variant not provided [RCV002082063] Chr4:16018449 [GRCh38]
Chr4:16020072 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2028T>A (p.Thr676=) single nucleotide variant not provided [RCV002156883] Chr4:15989780 [GRCh38]
Chr4:15991403 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1320C>T (p.Val440=) single nucleotide variant not provided [RCV002102612] Chr4:16006672 [GRCh38]
Chr4:16008295 [GRCh37]
Chr4:4p15.32
likely benign|conflicting interpretations of pathogenicity
NM_006017.3(PROM1):c.2131-18T>C single nucleotide variant not provided [RCV002199676] Chr4:15986055 [GRCh38]
Chr4:15987678 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1722C>T (p.His574=) single nucleotide variant not provided [RCV002181038] Chr4:15994032 [GRCh38]
Chr4:15995655 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.279A>G (p.Pro93=) single nucleotide variant not provided [RCV002163307] Chr4:16035759 [GRCh38]
Chr4:16037382 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1302-6C>T single nucleotide variant not provided [RCV002104236] Chr4:16006696 [GRCh38]
Chr4:16008319 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.630+8C>A single nucleotide variant not provided [RCV002204596] Chr4:16025184 [GRCh38]
Chr4:16026807 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.220+19G>A single nucleotide variant not provided [RCV002136449] Chr4:16075668 [GRCh38]
Chr4:16077291 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1410C>A (p.Thr470=) single nucleotide variant not provided [RCV002160917] Chr4:16006582 [GRCh38]
Chr4:16008205 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.220+7G>A single nucleotide variant not provided [RCV002120642] Chr4:16075680 [GRCh38]
Chr4:16077303 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.333A>C (p.Leu111=) single nucleotide variant not provided [RCV002144012] Chr4:16033480 [GRCh38]
Chr4:16035103 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1221A>G (p.Ser407=) single nucleotide variant not provided [RCV002203087] Chr4:16009029 [GRCh38]
Chr4:16010652 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2490-18C>T single nucleotide variant not provided [RCV002155996] Chr4:15979922 [GRCh38]
Chr4:15981545 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.509+10A>G single nucleotide variant not provided [RCV002144368] Chr4:16033294 [GRCh38]
Chr4:16034917 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.221-16G>A single nucleotide variant not provided [RCV002179162] Chr4:16039017 [GRCh38]
Chr4:16040640 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1578+13T>C single nucleotide variant not provided [RCV002144494] Chr4:16000483 [GRCh38]
Chr4:16002106 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1683-18C>T single nucleotide variant not provided [RCV002184706] Chr4:15994089 [GRCh38]
Chr4:15995712 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2374-6_2374-5insTC insertion not provided [RCV002179890] Chr4:15980542..15980543 [GRCh38]
Chr4:15982165..15982166 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1434C>T (p.Thr478=) single nucleotide variant not provided [RCV002099436] Chr4:16006558 [GRCh38]
Chr4:16008181 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.785-16G>T single nucleotide variant not provided [RCV002137092] Chr4:16018556 [GRCh38]
Chr4:16020179 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.613T>C (p.Leu205=) single nucleotide variant not provided [RCV002197762] Chr4:16025209 [GRCh38]
Chr4:16026832 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.585T>C (p.Asp195=) single nucleotide variant not provided [RCV002216655] Chr4:16025237 [GRCh38]
Chr4:16026860 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1593C>T (p.Pro531=) single nucleotide variant not provided [RCV002083510] Chr4:15998474 [GRCh38]
Chr4:16000097 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2374-10T>G single nucleotide variant not provided [RCV002135743] Chr4:15980547 [GRCh38]
Chr4:15982170 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1011C>T (p.Pro337=) single nucleotide variant not provided [RCV002083815] Chr4:16016232 [GRCh38]
Chr4:16017855 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2490-7T>C single nucleotide variant not provided [RCV002204154] Chr4:15979911 [GRCh38]
Chr4:15981534 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2489+19A>G single nucleotide variant not provided [RCV002138186] Chr4:15980403 [GRCh38]
Chr4:15982026 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2077-17_2077-15del microsatellite not provided [RCV002154914] Chr4:15987731..15987733 [GRCh38]
Chr4:15989354..15989356 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2490-11G>A single nucleotide variant not provided [RCV002217578] Chr4:15979915 [GRCh38]
Chr4:15981538 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2077-19A>G single nucleotide variant not provided [RCV002176622] Chr4:15987735 [GRCh38]
Chr4:15989358 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.165C>T (p.Leu55=) single nucleotide variant not provided [RCV002138491] Chr4:16075742 [GRCh38]
Chr4:16077365 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2582+8A>C single nucleotide variant not provided [RCV002201170] Chr4:15979387 [GRCh38]
Chr4:15981010 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.750C>A (p.Ile250=) single nucleotide variant not provided [RCV002102730] Chr4:16023360 [GRCh38]
Chr4:16024983 [GRCh37]
Chr4:4p15.32
likely benign
NC_000004.11:g.(?_16014878)_(16014981_?)del deletion not provided [RCV003116477] Chr4:16014878..16014981 [GRCh37]
Chr4:4p15.32
pathogenic
NC_000004.11:g.(?_15993851)_(15994034_?)del deletion not provided [RCV003116478] Chr4:15993851..15994034 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15972690)_(15972725_?)dup duplication not provided [RCV003116479] Chr4:15972690..15972725 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15987363)_(15989359_?)dup duplication not provided [RCV003116480] Chr4:15987363..15989359 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.630+1G>A single nucleotide variant not provided [RCV003112162] Chr4:16025191 [GRCh38]
Chr4:16026814 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.772T>A (p.Ser258Thr) single nucleotide variant not provided [RCV003121221] Chr4:16023338 [GRCh38]
Chr4:16024961 [GRCh37]
Chr4:4p15.32
uncertain significance
NC_000004.11:g.(?_15477557)_(16228080_?)dup duplication Familial aplasia of the vermis [RCV003122492]|not provided [RCV003122491] Chr4:15477557..16228080 [GRCh37]
Chr4:4p15.32
uncertain significance|no classifications from unflagged records
NM_006017.3(PROM1):c.400C>G (p.Arg134Gly) single nucleotide variant not provided [RCV003119037] Chr4:16033413 [GRCh38]
Chr4:16035036 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1463_1466delinsC (p.Gly488_Leu489delinsAla) indel not provided [RCV002275556] Chr4:16000608..16000611 [GRCh38]
Chr4:16002231..16002234 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1902C>G (p.Tyr634Ter) single nucleotide variant Cone-rod dystrophy 12 [RCV002289076] Chr4:15992257 [GRCh38]
Chr4:15993880 [GRCh37]
Chr4:4p15.32
pathogenic
GRCh37/hg19 4p16.3-15.31(chr4:68345-20964575)x1 copy number loss See cases [RCV002286359] Chr4:68345..20964575 [GRCh37]
Chr4:4p16.3-15.31
pathogenic
GRCh37/hg19 4p16.3-11(chr4:68345-49089361)x3 copy number gain See cases [RCV002292704] Chr4:68345..49089361 [GRCh37]
Chr4:4p16.3-11
pathogenic
NM_006017.3(PROM1):c.1494G>C (p.Met498Ile) single nucleotide variant not provided [RCV002291852] Chr4:16000580 [GRCh38]
Chr4:16002203 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.493A>G (p.Ile165Val) single nucleotide variant not provided [RCV002296946] Chr4:16033320 [GRCh38]
Chr4:16034943 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2212-1G>A single nucleotide variant not provided [RCV003131266] Chr4:15985829 [GRCh38]
Chr4:15987452 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.2537A>C (p.Tyr846Ser) single nucleotide variant not provided [RCV002303456] Chr4:15979440 [GRCh38]
Chr4:15981063 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.272A>G (p.Asp91Gly) single nucleotide variant not provided [RCV002303154] Chr4:16038950 [GRCh38]
Chr4:16040573 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2575A>G (p.Met859Val) single nucleotide variant not provided [RCV002303650] Chr4:15979402 [GRCh38]
Chr4:15981025 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.65A>G (p.Gln22Arg) single nucleotide variant not provided [RCV002305182] Chr4:16075842 [GRCh38]
Chr4:16077465 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1965A>C (p.Glu655Asp) single nucleotide variant not provided [RCV002301930] Chr4:15991240 [GRCh38]
Chr4:15992863 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2513A>T (p.Asn838Ile) single nucleotide variant not provided [RCV002294981] Chr4:15979881 [GRCh38]
Chr4:15981504 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2407G>T (p.Val803Leu) single nucleotide variant not provided [RCV002300183] Chr4:15980504 [GRCh38]
Chr4:15982127 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.752C>T (p.Pro251Leu) single nucleotide variant not provided [RCV002302985] Chr4:16023358 [GRCh38]
Chr4:16024981 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.935C>T (p.Ser312Leu) single nucleotide variant not provided [RCV002296683] Chr4:16018390 [GRCh38]
Chr4:16020013 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1922C>A (p.Ser641Tyr) single nucleotide variant not provided [RCV002995013] Chr4:15991283 [GRCh38]
Chr4:15992906 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.660C>G (p.Asn220Lys) single nucleotide variant Inborn genetic diseases [RCV002687238] Chr4:16024329 [GRCh38]
Chr4:16025952 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2330C>T (p.Thr777Ile) single nucleotide variant not provided [RCV002971777] Chr4:15984306 [GRCh38]
Chr4:15985929 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.442A>G (p.Lys148Glu) single nucleotide variant Inborn genetic diseases [RCV002817581] Chr4:16033371 [GRCh38]
Chr4:16034994 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1141G>A (p.Gly381Ser) single nucleotide variant not provided [RCV002862171] Chr4:16013275 [GRCh38]
Chr4:16014898 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1911+4T>C single nucleotide variant not provided [RCV002614003] Chr4:15992244 [GRCh38]
Chr4:15993867 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2086T>C (p.Tyr696His) single nucleotide variant Inborn genetic diseases [RCV002733036] Chr4:15987707 [GRCh38]
Chr4:15989330 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2301G>A (p.Ser767=) single nucleotide variant not provided [RCV002993835] Chr4:15984335 [GRCh38]
Chr4:15985958 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.880G>C (p.Val294Leu) single nucleotide variant not provided [RCV003016721] Chr4:16018445 [GRCh38]
Chr4:16020068 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1005T>G (p.Leu335=) single nucleotide variant not provided [RCV002730061] Chr4:16016238 [GRCh38]
Chr4:16017861 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1000C>T (p.Gln334Ter) single nucleotide variant not provided [RCV003033229] Chr4:16018325 [GRCh38]
Chr4:16019948 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.295G>T (p.Gly99Cys) single nucleotide variant not provided [RCV002819657] Chr4:16035743 [GRCh38]
Chr4:16037366 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.20C>T (p.Ser7Phe) single nucleotide variant not provided [RCV002618728] Chr4:16075887 [GRCh38]
Chr4:16077510 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1258A>G (p.Ile420Val) single nucleotide variant not provided [RCV002991446] Chr4:16008992 [GRCh38]
Chr4:16010615 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.859C>T (p.Leu287Phe) single nucleotide variant not provided [RCV002843296] Chr4:16018466 [GRCh38]
Chr4:16020089 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.784+9T>C single nucleotide variant not provided [RCV002755348] Chr4:16023317 [GRCh38]
Chr4:16024940 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1414_1415insTCC (p.Thr471_Arg472insLeu) insertion not provided [RCV003033517] Chr4:16006577..16006578 [GRCh38]
Chr4:16008200..16008201 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2076+14A>G single nucleotide variant not provided [RCV003013146] Chr4:15989718 [GRCh38]
Chr4:15991341 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2374-19_2374-17del microsatellite not provided [RCV002882071] Chr4:15980554..15980556 [GRCh38]
Chr4:15982177..15982179 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.25T>C (p.Leu9=) single nucleotide variant not provided [RCV002614614] Chr4:16075882 [GRCh38]
Chr4:16077505 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2076+7G>A single nucleotide variant not provided [RCV002750829] Chr4:15989725 [GRCh38]
Chr4:15991348 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2456A>G (p.Tyr819Cys) single nucleotide variant not provided [RCV002994810] Chr4:15980455 [GRCh38]
Chr4:15982078 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1315C>T (p.Leu439=) single nucleotide variant not provided [RCV003032585] Chr4:16006677 [GRCh38]
Chr4:16008300 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2284A>C (p.Ser762Arg) single nucleotide variant not provided [RCV002755498] Chr4:15984352 [GRCh38]
Chr4:15985975 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2194T>A (p.Ser732Thr) single nucleotide variant not provided [RCV002839452] Chr4:15985974 [GRCh38]
Chr4:15987597 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2019T>A (p.Asp673Glu) single nucleotide variant not provided [RCV002970597] Chr4:15989789 [GRCh38]
Chr4:15991412 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.221-11T>C single nucleotide variant not provided [RCV002839088] Chr4:16039012 [GRCh38]
Chr4:16040635 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2489+1G>A single nucleotide variant not provided [RCV003014033] Chr4:15980421 [GRCh38]
Chr4:15982044 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1002+13G>C single nucleotide variant not provided [RCV003012114] Chr4:16018310 [GRCh38]
Chr4:16019933 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1027G>A (p.Asp343Asn) single nucleotide variant not provided [RCV003020714] Chr4:16016216 [GRCh38]
Chr4:16017839 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2325A>G (p.Leu775=) single nucleotide variant not provided [RCV002695538] Chr4:15984311 [GRCh38]
Chr4:15985934 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1209G>A (p.Gln403=) single nucleotide variant not provided [RCV003039564] Chr4:16009041 [GRCh38]
Chr4:16010664 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.631-13G>T single nucleotide variant not provided [RCV002622995] Chr4:16024371 [GRCh38]
Chr4:16025994 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1210G>A (p.Asp404Asn) single nucleotide variant not provided [RCV002953751] Chr4:16009040 [GRCh38]
Chr4:16010663 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2549A>G (p.His850Arg) single nucleotide variant not provided [RCV002592225] Chr4:15979428 [GRCh38]
Chr4:15981051 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.471C>T (p.Cys157=) single nucleotide variant not provided [RCV002592993] Chr4:16033342 [GRCh38]
Chr4:16034965 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.509+5G>A single nucleotide variant not provided [RCV002923543] Chr4:16033299 [GRCh38]
Chr4:16034922 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1564A>G (p.Lys522Glu) single nucleotide variant not provided [RCV002923750] Chr4:16000510 [GRCh38]
Chr4:16002133 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.731G>C (p.Arg244Pro) single nucleotide variant not provided [RCV002621288] Chr4:16023379 [GRCh38]
Chr4:16025002 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2513+4A>C single nucleotide variant not provided [RCV002868017] Chr4:15979877 [GRCh38]
Chr4:15981500 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1162T>C (p.Ser388Pro) single nucleotide variant not provided [RCV002923190] Chr4:16009088 [GRCh38]
Chr4:16010711 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.303+14C>A single nucleotide variant not provided [RCV003036517] Chr4:16035721 [GRCh38]
Chr4:16037344 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2462G>A (p.Arg821Gln) single nucleotide variant not provided [RCV002760684] Chr4:15980449 [GRCh38]
Chr4:15982072 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2281-8C>A single nucleotide variant not provided [RCV002569879] Chr4:15984363 [GRCh38]
Chr4:15985986 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2269A>T (p.Ile757Phe) single nucleotide variant not provided [RCV002797270] Chr4:15985771 [GRCh38]
Chr4:15987394 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1537A>G (p.Lys513Glu) single nucleotide variant not provided [RCV003037574] Chr4:16000537 [GRCh38]
Chr4:16002160 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2553A>G (p.Val851=) single nucleotide variant not provided [RCV003018581] Chr4:15979424 [GRCh38]
Chr4:15981047 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1539del (p.Lys513fs) deletion not provided [RCV002867870] Chr4:16000535 [GRCh38]
Chr4:16002158 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2409del (p.Leu805fs) deletion not provided [RCV003036546] Chr4:15980502 [GRCh38]
Chr4:15982125 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1474C>G (p.Leu492Val) single nucleotide variant not provided [RCV002796417] Chr4:16000600 [GRCh38]
Chr4:16002223 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1767G>A (p.Glu589=) single nucleotide variant not provided [RCV002659044] Chr4:15993987 [GRCh38]
Chr4:15995610 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2489+20C>T single nucleotide variant not provided [RCV002569798] Chr4:15980402 [GRCh38]
Chr4:15982025 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1960C>T (p.Leu654=) single nucleotide variant not provided [RCV002756804] Chr4:15991245 [GRCh38]
Chr4:15992868 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.303+1G>C single nucleotide variant not provided [RCV003036364] Chr4:16035734 [GRCh38]
Chr4:16037357 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1010C>G (p.Pro337Arg) single nucleotide variant not provided [RCV003000097] Chr4:16016233 [GRCh38]
Chr4:16017856 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.600C>T (p.Asp200=) single nucleotide variant not provided [RCV002824625] Chr4:16025222 [GRCh38]
Chr4:16026845 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.276+17G>T single nucleotide variant not provided [RCV003053535] Chr4:16038929 [GRCh38]
Chr4:16040552 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.76A>G (p.Thr26Ala) single nucleotide variant not provided [RCV002621310] Chr4:16075831 [GRCh38]
Chr4:16077454 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2113A>G (p.Thr705Ala) single nucleotide variant not provided [RCV002662701] Chr4:15987680 [GRCh38]
Chr4:15989303 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1044T>C (p.Val348=) single nucleotide variant not provided [RCV002923546] Chr4:16016199 [GRCh38]
Chr4:16017822 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.631-10_631-8del deletion not provided [RCV002948614] Chr4:16024366..16024368 [GRCh38]
Chr4:16025989..16025991 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1817dup (p.Asn606fs) duplication not provided [RCV002824108] Chr4:15992341..15992342 [GRCh38]
Chr4:15993964..15993965 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1454+10T>C single nucleotide variant not provided [RCV002866580] Chr4:16006528 [GRCh38]
Chr4:16008151 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1012G>A (p.Val338Met) single nucleotide variant Inborn genetic diseases [RCV003269360]|not provided [RCV002949471] Chr4:16016231 [GRCh38]
Chr4:16017854 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1799G>T (p.Ser600Ile) single nucleotide variant not provided [RCV002885131] Chr4:15992360 [GRCh38]
Chr4:15993983 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1179C>G (p.Ile393Met) single nucleotide variant not provided [RCV003019045] Chr4:16009071 [GRCh38]
Chr4:16010694 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2579C>T (p.Thr860Ile) single nucleotide variant not provided [RCV002658543] Chr4:15979398 [GRCh38]
Chr4:15981021 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2374-4C>A single nucleotide variant not provided [RCV003024885] Chr4:15980541 [GRCh38]
Chr4:15982164 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2281-6C>T single nucleotide variant not provided [RCV002711804] Chr4:15984361 [GRCh38]
Chr4:15985984 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.649G>A (p.Ala217Thr) single nucleotide variant not provided [RCV002745249] Chr4:16024340 [GRCh38]
Chr4:16025963 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1383C>T (p.Cys461=) single nucleotide variant not provided [RCV002666934] Chr4:16006609 [GRCh38]
Chr4:16008232 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.614T>C (p.Leu205Ser) single nucleotide variant not provided [RCV003043236] Chr4:16025208 [GRCh38]
Chr4:16026831 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.695-10T>C single nucleotide variant not provided [RCV003059475] Chr4:16023425 [GRCh38]
Chr4:16025048 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2250del (p.Phe750fs) deletion not provided [RCV002791179] Chr4:15985790 [GRCh38]
Chr4:15987413 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.770A>G (p.Lys257Arg) single nucleotide variant not provided [RCV003043442] Chr4:16023340 [GRCh38]
Chr4:16024963 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1187dup (p.Thr397fs) duplication not provided [RCV002852650] Chr4:16009062..16009063 [GRCh38]
Chr4:16010685..16010686 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.2401G>T (p.Ala801Ser) single nucleotide variant not provided [RCV002805636] Chr4:15980510 [GRCh38]
Chr4:15982133 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2584C>G (p.Pro862Ala) single nucleotide variant Inborn genetic diseases [RCV002768167] Chr4:15971081 [GRCh38]
Chr4:15972704 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2077-15T>C single nucleotide variant not provided [RCV002872771] Chr4:15987731 [GRCh38]
Chr4:15989354 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2281-4dup duplication not provided [RCV002853306] Chr4:15984358..15984359 [GRCh38]
Chr4:15985981..15985982 [GRCh37]
Chr4:4p15.32
benign
NM_006017.3(PROM1):c.2076+11_2076+14del deletion not provided [RCV002594514] Chr4:15989718..15989721 [GRCh38]
Chr4:15991341..15991344 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1134C>T (p.Val378=) single nucleotide variant not provided [RCV002594117] Chr4:16013282 [GRCh38]
Chr4:16014905 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.3G>A (p.Met1Ile) single nucleotide variant not provided [RCV002664339] Chr4:16075904 [GRCh38]
Chr4:16077527 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1455-20A>G single nucleotide variant not provided [RCV002985394] Chr4:16000639 [GRCh38]
Chr4:16002262 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1622A>G (p.Tyr541Cys) single nucleotide variant not provided [RCV002624499] Chr4:15998445 [GRCh38]
Chr4:16000068 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2211+2T>C single nucleotide variant not provided [RCV002851944] Chr4:15985955 [GRCh38]
Chr4:15987578 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1579-3T>C single nucleotide variant not provided [RCV002663325] Chr4:15998491 [GRCh38]
Chr4:16000114 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.221-9T>C single nucleotide variant not provided [RCV003040860] Chr4:16039010 [GRCh38]
Chr4:16040633 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1767+14G>A single nucleotide variant not provided [RCV002594476] Chr4:15993973 [GRCh38]
Chr4:15995596 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.510C>A (p.Ser170Arg) single nucleotide variant not provided [RCV003024926] Chr4:16025312 [GRCh38]
Chr4:16026935 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1813C>G (p.Leu605Val) single nucleotide variant Inborn genetic diseases [RCV003167456]|not provided [RCV002593668] Chr4:15992346 [GRCh38]
Chr4:15993969 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2436G>A (p.Ala812=) single nucleotide variant not provided [RCV002982183] Chr4:15980475 [GRCh38]
Chr4:15982098 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.140A>G (p.His47Arg) single nucleotide variant not provided [RCV002711296] Chr4:16075767 [GRCh38]
Chr4:16077390 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2393T>C (p.Ile798Thr) single nucleotide variant Inborn genetic diseases [RCV002664549] Chr4:15980518 [GRCh38]
Chr4:15982141 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1333C>T (p.Leu445=) single nucleotide variant not provided [RCV003005856] Chr4:16006659 [GRCh38]
Chr4:16008282 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1682+19T>C single nucleotide variant not provided [RCV002642756] Chr4:15998366 [GRCh38]
Chr4:15999989 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.162T>G (p.Ile54Met) single nucleotide variant not provided [RCV003043064] Chr4:16075745 [GRCh38]
Chr4:16077368 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2534G>T (p.Gly845Val) single nucleotide variant not provided [RCV003059293] Chr4:15979443 [GRCh38]
Chr4:15981066 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1403C>T (p.Thr468Ile) single nucleotide variant not provided [RCV003022270] Chr4:16006589 [GRCh38]
Chr4:16008212 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.904C>G (p.Leu302Val) single nucleotide variant Inborn genetic diseases [RCV002935177] Chr4:16018421 [GRCh38]
Chr4:16020044 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1655T>C (p.Met552Thr) single nucleotide variant not provided [RCV002597624] Chr4:15998412 [GRCh38]
Chr4:16000035 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.630+1del deletion not provided [RCV002962196] Chr4:16025191 [GRCh38]
Chr4:16026814 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1234T>C (p.Tyr412His) single nucleotide variant not provided [RCV003049332] Chr4:16009016 [GRCh38]
Chr4:16010639 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.980A>G (p.Asn327Ser) single nucleotide variant not provided [RCV002651823] Chr4:16018345 [GRCh38]
Chr4:16019968 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.42C>T (p.Cys14=) single nucleotide variant not provided [RCV002631956] Chr4:16075865 [GRCh38]
Chr4:16077488 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.160A>G (p.Ile54Val) single nucleotide variant not provided [RCV002967294] Chr4:16075747 [GRCh38]
Chr4:16077370 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1422T>C (p.Cys474=) single nucleotide variant not provided [RCV002856839] Chr4:16006570 [GRCh38]
Chr4:16008193 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.341T>A (p.Val114Asp) single nucleotide variant not provided [RCV003046005] Chr4:16033472 [GRCh38]
Chr4:16035095 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1118G>A (p.Arg373His) single nucleotide variant not provided [RCV002579946] Chr4:16013298 [GRCh38]
Chr4:16014921 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.238T>G (p.Leu80Val) single nucleotide variant not provided [RCV002806969] Chr4:16038984 [GRCh38]
Chr4:16040607 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1578+18C>T single nucleotide variant not provided [RCV002833108] Chr4:16000478 [GRCh38]
Chr4:16002101 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2419C>T (p.Pro807Ser) single nucleotide variant not provided [RCV002746604] Chr4:15980492 [GRCh38]
Chr4:15982115 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.937A>G (p.Ser313Gly) single nucleotide variant not provided [RCV002806292] Chr4:16018388 [GRCh38]
Chr4:16020011 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2490-20C>T single nucleotide variant not provided [RCV002877552] Chr4:15979924 [GRCh38]
Chr4:15981547 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2351G>A (p.Cys784Tyr) single nucleotide variant not provided [RCV002833609] Chr4:15984285 [GRCh38]
Chr4:15985908 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2513+11T>A single nucleotide variant not provided [RCV003028328] Chr4:15979870 [GRCh38]
Chr4:15981493 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.694+3G>T single nucleotide variant not provided [RCV003009486] Chr4:16024292 [GRCh38]
Chr4:16025915 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1827G>T (p.Leu609=) single nucleotide variant not provided [RCV002597459] Chr4:15992332 [GRCh38]
Chr4:15993955 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1731C>T (p.Asn577=) single nucleotide variant not provided [RCV002877427] Chr4:15994023 [GRCh38]
Chr4:15995646 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2080A>G (p.Thr694Ala) single nucleotide variant not provided [RCV002631990] Chr4:15987713 [GRCh38]
Chr4:15989336 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2500A>G (p.Ile834Val) single nucleotide variant not provided [RCV003029466] Chr4:15979894 [GRCh38]
Chr4:15981517 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1078-3del deletion not provided [RCV002649535] Chr4:16013341 [GRCh38]
Chr4:16014964 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.260A>G (p.Lys87Arg) single nucleotide variant not provided [RCV003027880] Chr4:16038962 [GRCh38]
Chr4:16040585 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2490-17T>C single nucleotide variant not provided [RCV002631470] Chr4:15979921 [GRCh38]
Chr4:15981544 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.429G>T (p.Met143Ile) single nucleotide variant not provided [RCV002806554] Chr4:16033384 [GRCh38]
Chr4:16035007 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2046G>A (p.Gln682=) single nucleotide variant not provided [RCV003044860] Chr4:15989762 [GRCh38]
Chr4:15991385 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.22C>T (p.Leu8=) single nucleotide variant not provided [RCV002811599] Chr4:16075885 [GRCh38]
Chr4:16077508 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1855C>T (p.Gln619Ter) single nucleotide variant not provided [RCV002966383] Chr4:15992304 [GRCh38]
Chr4:15993927 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1373G>A (p.Cys458Tyr) single nucleotide variant not provided [RCV003091116] Chr4:16006619 [GRCh38]
Chr4:16008242 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2207T>C (p.Ile736Thr) single nucleotide variant not provided [RCV002578144] Chr4:15985961 [GRCh38]
Chr4:15987584 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.782C>T (p.Thr261Ile) single nucleotide variant not provided [RCV002938796] Chr4:16023328 [GRCh38]
Chr4:16024951 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.381G>A (p.Gly127=) single nucleotide variant not provided [RCV002856277] Chr4:16033432 [GRCh38]
Chr4:16035055 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.347G>T (p.Gly116Val) single nucleotide variant not provided [RCV002834392] Chr4:16033466 [GRCh38]
Chr4:16035089 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.916C>T (p.Leu306=) single nucleotide variant not provided [RCV002597630] Chr4:16018409 [GRCh38]
Chr4:16020032 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.304-12_304-9del microsatellite not provided [RCV002630324] Chr4:16033518..16033521 [GRCh38]
Chr4:16035141..16035144 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1931G>A (p.Gly644Glu) single nucleotide variant not provided [RCV002856114] Chr4:15991274 [GRCh38]
Chr4:15992897 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1970A>G (p.Lys657Arg) single nucleotide variant not provided [RCV002720907] Chr4:15991235 [GRCh38]
Chr4:15992858 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2383T>C (p.Trp795Arg) single nucleotide variant not provided [RCV002651821] Chr4:15980528 [GRCh38]
Chr4:15982151 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1911+1G>A single nucleotide variant not provided [RCV002651822] Chr4:15992247 [GRCh38]
Chr4:15993870 [GRCh37]
Chr4:4p15.32
pathogenic
NM_006017.3(PROM1):c.1555T>G (p.Tyr519Asp) single nucleotide variant not provided [RCV002676122] Chr4:16000519 [GRCh38]
Chr4:16002142 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1584G>A (p.Leu528=) single nucleotide variant not provided [RCV003061548] Chr4:15998483 [GRCh38]
Chr4:16000106 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.169G>A (p.Glu57Lys) single nucleotide variant not provided [RCV002646423] Chr4:16075738 [GRCh38]
Chr4:16077361 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2374-5C>T single nucleotide variant not provided [RCV002603979] Chr4:15980542 [GRCh38]
Chr4:15982165 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.216A>G (p.Pro72=) single nucleotide variant not provided [RCV003093461] Chr4:16075691 [GRCh38]
Chr4:16077314 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1142G>A (p.Gly381Asp) single nucleotide variant not provided [RCV002635123] Chr4:16009108 [GRCh38]
Chr4:16010731 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1882A>G (p.Arg628Gly) single nucleotide variant not provided [RCV002653614] Chr4:15992277 [GRCh38]
Chr4:15993900 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.603G>A (p.Leu201=) single nucleotide variant not provided [RCV002721318] Chr4:16025219 [GRCh38]
Chr4:16026842 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1683-5C>T single nucleotide variant not provided [RCV002814411] Chr4:15994076 [GRCh38]
Chr4:15995699 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1071C>T (p.Val357=) single nucleotide variant not provided [RCV002942380] Chr4:16016172 [GRCh38]
Chr4:16017795 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1901A>G (p.Tyr634Cys) single nucleotide variant not provided [RCV002605101] Chr4:15992258 [GRCh38]
Chr4:15993881 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.204G>A (p.Pro68=) single nucleotide variant not provided [RCV002725664] Chr4:16075703 [GRCh38]
Chr4:16077326 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.43G>A (p.Gly15Arg) single nucleotide variant not provided [RCV002586114] Chr4:16075864 [GRCh38]
Chr4:16077487 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1360C>G (p.Leu454Val) single nucleotide variant not provided [RCV002584561] Chr4:16006632 [GRCh38]
Chr4:16008255 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1984-20G>C single nucleotide variant not provided [RCV002608110] Chr4:15989844 [GRCh38]
Chr4:15991467 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1077+8T>G single nucleotide variant not provided [RCV002721498] Chr4:16016158 [GRCh38]
Chr4:16017781 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2020G>A (p.Ala674Thr) single nucleotide variant not provided [RCV003069434] Chr4:15989788 [GRCh38]
Chr4:15991411 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1767+14G>T single nucleotide variant not provided [RCV002589673] Chr4:15993973 [GRCh38]
Chr4:15995596 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.2545G>A (p.Asp849Asn) single nucleotide variant not provided [RCV002584526] Chr4:15979432 [GRCh38]
Chr4:15981055 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.630G>A (p.Glu210=) single nucleotide variant not provided [RCV002676721] Chr4:16025192 [GRCh38]
Chr4:16026815 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.893T>A (p.Leu298Gln) single nucleotide variant not provided [RCV003068907] Chr4:16018432 [GRCh38]
Chr4:16020055 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.91G>C (p.Ala31Pro) single nucleotide variant not provided [RCV003093565] Chr4:16075816 [GRCh38]
Chr4:16077439 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.161T>C (p.Ile54Thr) single nucleotide variant not provided [RCV003073072] Chr4:16075746 [GRCh38]
Chr4:16077369 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1767+17A>T single nucleotide variant not provided [RCV002943452] Chr4:15993970 [GRCh38]
Chr4:15995593 [GRCh37]
Chr4:4p15.32
likely benign
GRCh38/hg38 4p15.33-14(chr4:11399082-38137335) copy number loss 4p partial monosomy syndrome [RCV003155905] Chr4:11399082..38137335 [GRCh38]
Chr4:4p15.33-14
pathogenic
NM_006017.3(PROM1):c.1559C>G (p.Thr520Arg) single nucleotide variant not provided [RCV003223161] Chr4:16000515 [GRCh38]
Chr4:16002138 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1078G>A (p.Gly360Ser) single nucleotide variant Inborn genetic diseases [RCV003221185] Chr4:16013338 [GRCh38]
Chr4:16014961 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2118del (p.Asn707fs) deletion Cone-rod dystrophy 12 [RCV003226085] Chr4:15987675 [GRCh38]
Chr4:15989298 [GRCh37]
Chr4:4p15.32
likely pathogenic
NM_006017.3(PROM1):c.823A>G (p.Ser275Gly) single nucleotide variant Inborn genetic diseases [RCV003210367] Chr4:16018502 [GRCh38]
Chr4:16020125 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.749T>C (p.Ile250Thr) single nucleotide variant Inborn genetic diseases [RCV003194868] Chr4:16023361 [GRCh38]
Chr4:16024984 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p16.3-15.1(chr4:68345-34512694) copy number gain 4p16.3 microduplication syndrome [RCV003319592] Chr4:68345..34512694 [GRCh37]
Chr4:4p16.3-15.1
pathogenic
NM_006017.3(PROM1):c.2267G>A (p.Trp756Ter) single nucleotide variant Cone-rod dystrophy [RCV003324707] Chr4:15985773 [GRCh38]
Chr4:15987396 [GRCh37]
Chr4:4p15.32
likely pathogenic
GRCh38/hg38 4p16.3-13(chr4:2904667-42963232)x3 copy number gain Neurodevelopmental disorder [RCV003327612] Chr4:2904667..42963232 [GRCh38]
Chr4:4p16.3-13
pathogenic
GRCh38/hg38 4p16.3-q12(chr4:85624-57073230)x3 copy number gain Neurodevelopmental disorder [RCV003327613] Chr4:85624..57073230 [GRCh38]
Chr4:4p16.3-q12
pathogenic
GRCh38/hg38 4p16.3-11(chr4:1-49062177)x3 copy number gain Neurodevelopmental disorder [RCV003327611] Chr4:1..49062177 [GRCh38]
Chr4:4p16.3-11
pathogenic
GRCh37/hg19 4p16.3-15.32(chr4:85622-16900108)x1 copy number loss not provided [RCV003334269] Chr4:85622..16900108 [GRCh37]
Chr4:4p16.3-15.32
pathogenic
NM_006017.3(PROM1):c.1577G>T (p.Arg526Leu) single nucleotide variant Inborn genetic diseases [RCV003347514] Chr4:16000497 [GRCh38]
Chr4:16002120 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2004C>A (p.Asn668Lys) single nucleotide variant Inborn genetic diseases [RCV003354626] Chr4:15989804 [GRCh38]
Chr4:15991427 [GRCh37]
Chr4:4p15.32
uncertain significance
GRCh37/hg19 4p15.33-15.2(chr4:12238766-23083496)x1 copy number loss not provided [RCV003485415] Chr4:12238766..23083496 [GRCh37]
Chr4:4p15.33-15.2
likely pathogenic
NM_006017.3(PROM1):c.102T>C (p.Tyr34=) single nucleotide variant not provided [RCV003434982] Chr4:16075805 [GRCh38]
Chr4:16077428 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1874G>T (p.Gly625Val) single nucleotide variant not provided [RCV003575896] Chr4:15992285 [GRCh38]
Chr4:15993908 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.439C>G (p.Gln147Glu) single nucleotide variant not provided [RCV003573812] Chr4:16033374 [GRCh38]
Chr4:16034997 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2501T>C (p.Ile834Thr) single nucleotide variant not provided [RCV003661429] Chr4:15979893 [GRCh38]
Chr4:15981516 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.2534G>C (p.Gly845Ala) single nucleotide variant not provided [RCV003877978] Chr4:15979443 [GRCh38]
Chr4:15981066 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1099A>G (p.Ile367Val) single nucleotide variant not provided [RCV003572137] Chr4:16013317 [GRCh38]
Chr4:16014940 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.59G>T (p.Gly20Val) single nucleotide variant not provided [RCV003825034] Chr4:16075848 [GRCh38]
Chr4:16077471 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.369G>A (p.Met123Ile) single nucleotide variant not provided [RCV003574276] Chr4:16033444 [GRCh38]
Chr4:16035067 [GRCh37]
Chr4:4p15.32
uncertain significance
NM_006017.3(PROM1):c.1989A>G (p.Pro663=) single nucleotide variant not provided [RCV003686746] Chr4:15989819 [GRCh38]
Chr4:15991442 [GRCh37]
Chr4:4p15.32
likely benign
NM_006017.3(PROM1):c.1709dup (p.Tyr570Ter) duplication not provided [RCV003779373] Chr4:15994044..15994045 [GRCh38]
Chr4:15995667..15995668 [GRCh37]
Chr4:4p15.32
pathogenic
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR142hsa-miR-142-3pMirtarbaseexternal_infoReporter assayFunctional MTI21394831
MIR142hsa-miR-142-3pTarbaseexternal_infoReporter GenePOSITIVE

Predicted Target Of
Summary Value
Count of predictions:5173
Count of miRNA genes:1182
Interacting mature miRNAs:1475
Transcripts:ENST00000447510, ENST00000502501, ENST00000502943, ENST00000503884, ENST00000504842, ENST00000505450, ENST00000508167, ENST00000508322, ENST00000508940, ENST00000510224, ENST00000511153, ENST00000511270, ENST00000512304, ENST00000513108, ENST00000513448, ENST00000513946, ENST00000514693, ENST00000514967, ENST00000539194, ENST00000540805, ENST00000543373
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.

Markers in Region
D4S2397  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,257,867 - 27,258,003UniSTSGRCh37
Build 36426,866,965 - 26,867,101RGDNCBI36
Celera427,707,306 - 27,707,442RGD
Cytogenetic Map4p15.32UniSTS
HuRef426,595,762 - 26,595,900UniSTS
Marshfield Genetic Map442.74UniSTS
Marshfield Genetic Map442.74RGD
Whitehead-RH Map4139.2UniSTS
D4S391  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37427,612,448 - 27,612,661UniSTSGRCh37
GRCh37427,612,325 - 27,612,491UniSTSGRCh37
Build 36427,221,423 - 27,221,589RGDNCBI36
Celera428,061,810 - 28,061,976RGD
Celera428,061,933 - 28,062,146UniSTS
Cytogenetic Map4p15.32UniSTS
HuRef426,950,212 - 26,950,376UniSTS
HuRef426,950,333 - 26,950,546UniSTS
Marshfield Genetic Map443.59UniSTS
Marshfield Genetic Map443.59RGD
Genethon Genetic Map443.2UniSTS
TNG Radiation Hybrid Map416524.0UniSTS
deCODE Assembly Map447.33UniSTS
GeneMap99-GB4 RH Map4118.08UniSTS
Whitehead-YAC Contig Map4 UniSTS
GeneMap99-G3 RH Map41628.0UniSTS
D4S403  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37413,750,904 - 13,751,091UniSTSGRCh37
GRCh37413,750,946 - 13,751,166UniSTSGRCh37
Build 36413,360,044 - 13,360,264RGDNCBI36
Celera414,217,164 - 14,217,390RGD
Celera414,217,122 - 14,217,315UniSTS
HuRef413,088,849 - 13,089,042UniSTS
HuRef413,088,891 - 13,089,117UniSTS
Marshfield Genetic Map425.9RGD
Genethon Genetic Map424.9UniSTS
TNG Radiation Hybrid Map49055.0UniSTS
deCODE Assembly Map426.71UniSTS
GeneMap99-GB4 RH Map466.87UniSTS
Whitehead-RH Map480.6UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S3023  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3744,301,469 - 4,301,613UniSTSGRCh37
Build 3644,352,370 - 4,352,514RGDNCBI36
Celera44,199,092 - 4,199,242RGD
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map4p16.3UniSTS
HuRef44,237,147 - 4,237,295UniSTS
Marshfield Genetic Map48.24UniSTS
Marshfield Genetic Map48.24RGD
Genethon Genetic Map46.7UniSTS
TNG Radiation Hybrid Map42481.0UniSTS
deCODE Assembly Map47.17UniSTS
Stanford-G3 RH Map4258.0UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map462.1UniSTS
D4S3048  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,007,073 - 16,007,323UniSTSGRCh37
Build 36415,616,171 - 15,616,421RGDNCBI36
Celera416,471,637 - 16,471,883RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,356,720 - 15,356,958UniSTS
Marshfield Genetic Map429.14RGD
Marshfield Genetic Map429.14UniSTS
Genethon Genetic Map428.2UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S3022  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37425,614,536 - 25,614,676UniSTSGRCh37
Build 36425,223,634 - 25,223,774RGDNCBI36
Celera426,062,607 - 26,062,747RGD
Cytogenetic Map4p15.32UniSTS
HuRef424,953,015 - 24,953,155UniSTS
Marshfield Genetic Map439.3RGD
Marshfield Genetic Map439.3UniSTS
Genethon Genetic Map438.9UniSTS
TNG Radiation Hybrid Map415866.0UniSTS
deCODE Assembly Map442.43UniSTS
Whitehead-YAC Contig Map4 UniSTS
D4S1601  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,021,434 - 16,021,565UniSTSGRCh37
Build 36415,630,532 - 15,630,663RGDNCBI36
Celera416,485,995 - 16,486,127RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,371,073 - 15,371,206UniSTS
Marshfield Genetic Map429.68UniSTS
Marshfield Genetic Map429.68RGD
Genethon Genetic Map428.2UniSTS
GeneMap99-GB4 RH Map476.51UniSTS
Whitehead-RH Map484.6UniSTS
Whitehead-YAC Contig Map4 UniSTS
NCBI RH Map4137.7UniSTS
D4S1582  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37410,701,585 - 10,701,696UniSTSGRCh37
Build 36410,310,683 - 10,310,794RGDNCBI36
Celera411,166,365 - 11,166,486RGD
Cytogenetic Map4p15.32UniSTS
HuRef410,035,219 - 10,035,340UniSTS
Marshfield Genetic Map423.76RGD
Marshfield Genetic Map423.76UniSTS
Genethon Genetic Map422.0UniSTS
deCODE Assembly Map423.06UniSTS
Whitehead-YAC Contig Map4 UniSTS
SHGC4-910  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,021,456 - 16,021,659UniSTSGRCh37
Build 36415,630,554 - 15,630,757RGDNCBI36
Celera416,486,017 - 16,486,221RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,371,095 - 15,371,300UniSTS
TNG Radiation Hybrid Map410588.0UniSTS
GeneMap99-G3 RH Map4994.0UniSTS
G16721  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,011,833 - 16,011,996UniSTSGRCh37
Build 36415,620,931 - 15,621,094RGDNCBI36
Celera416,476,393 - 16,476,556RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,361,466 - 15,361,629UniSTS
RH121881  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,969,916 - 15,970,060UniSTSGRCh37
GRCh373106,261,951 - 106,262,095UniSTSGRCh37
Build 363107,744,641 - 107,744,785RGDNCBI36
Celera3104,660,342 - 104,660,486RGD
Celera416,434,464 - 16,434,608UniSTS
Cytogenetic Map4p15.32UniSTS
HuRef3103,636,591 - 103,636,735UniSTS
HuRef415,319,505 - 15,319,649UniSTS
G62790  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,037,163 - 16,037,445UniSTSGRCh37
Build 36415,646,261 - 15,646,543RGDNCBI36
Celera416,501,726 - 16,502,008RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,386,809 - 15,387,091UniSTS
TNG Radiation Hybrid Map410595.0UniSTS
SHGC-141874  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,068,109 - 16,068,403UniSTSGRCh37
Build 36415,677,207 - 15,677,501RGDNCBI36
Celera416,532,662 - 16,532,956RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,417,682 - 15,417,976UniSTS
TNG Radiation Hybrid Map410607.0UniSTS
SHGC-147822  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,073,034 - 16,073,332UniSTSGRCh37
Build 36415,682,132 - 15,682,430RGDNCBI36
Celera416,537,587 - 16,537,885RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,422,607 - 15,422,905UniSTS
TNG Radiation Hybrid Map410607.0UniSTS
SHGC-149115  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,031,245 - 16,031,572UniSTSGRCh37
Build 36415,640,343 - 15,640,670RGDNCBI36
Celera416,495,810 - 16,496,137RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,380,888 - 15,381,215UniSTS
TNG Radiation Hybrid Map410595.0UniSTS
G33894  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,973,935 - 15,974,059UniSTSGRCh37
Build 36415,583,033 - 15,583,157RGDNCBI36
Celera416,438,482 - 16,438,606RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,323,523 - 15,323,647UniSTS
WI-22012  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,969,881 - 15,970,128UniSTSGRCh37
Build 36415,578,979 - 15,579,226RGDNCBI36
Celera416,434,429 - 16,434,676RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,319,470 - 15,319,717UniSTS
GeneMap99-GB4 RH Map476.51UniSTS
Whitehead-RH Map484.7UniSTS
NCBI RH Map4132.7UniSTS
SHGC-7038  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,973,792 - 15,974,055UniSTSGRCh37
Build 36415,582,890 - 15,583,153RGDNCBI36
Celera416,438,339 - 16,438,602RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,323,380 - 15,323,643UniSTS
TNG Radiation Hybrid Map410565.0UniSTS
stb448g15.p4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37415,980,547 - 15,980,721UniSTSGRCh37
Build 36415,589,645 - 15,589,819RGDNCBI36
Celera416,445,090 - 16,445,264RGD
HuRef415,330,141 - 15,330,315UniSTS
D4S497  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,068,833 - 16,069,023UniSTSGRCh37
Build 36415,677,931 - 15,678,121RGDNCBI36
Celera416,533,386 - 16,533,576RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,418,406 - 15,418,596UniSTS
TNG Radiation Hybrid Map410613.0UniSTS
SHGC-24088  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37416,068,779 - 16,069,021UniSTSGRCh37
Build 36415,677,877 - 15,678,119RGDNCBI36
Celera416,533,332 - 16,533,574RGD
Cytogenetic Map4p15.32UniSTS
HuRef415,418,352 - 15,418,594UniSTS
D4S403  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4p15.32UniSTS
Cytogenetic Map4p16-p15.2UniSTS
Marshfield Genetic Map425.9UniSTS
Genethon Genetic Map424.9UniSTS
deCODE Assembly Map426.71UniSTS
GeneMap99-GB4 RH Map466.87UniSTS
Whitehead-RH Map480.6UniSTS
Whitehead-YAC Contig Map4 UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component
High
Medium 537 80 54 173 112 26 211 16 41 158 218 136 148 29 1
Low 1755 1672 818 262 194 257 1694 1204 2621 163 657 931 7 1 28 1192 1
Below cutoff 112 1138 756 144 1125 136 2326 960 980 64 499 436 10 1072 1533 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011696 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145847 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145848 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145849 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145850 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145851 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001145852 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371406 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371407 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001371408 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_006017 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248195 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_005248196 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_006713974 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513892 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513893 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513894 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513895 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513896 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513897 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513900 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513902 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011513903 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017008800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024454276 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416370 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416372 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416373 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416374 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416375 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416376 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416377 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416378 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416379 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351160 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351161 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351162 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351166 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351167 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351169 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351170 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351171 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351172 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351175 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351176 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351177 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351181 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351182 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351183 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351184 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351185 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA622198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC005598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC108063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF027208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF117225 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF507034 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK025391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027420 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK027422 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075411 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK226033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310415 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK314529 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX816200 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AX879278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY275524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY438640 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY438641 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY449689 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY449690 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY449691 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY449692 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY449693 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC012089 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX538056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471069 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB326234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ628626 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ628627 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000447510   ⟹   ENSP00000415481
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,228 - 16,084,023 (-)Ensembl
RefSeq Acc Id: ENST00000502501
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,076,059 - 16,083,658 (-)Ensembl
RefSeq Acc Id: ENST00000502943
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,018,301 - 16,038,014 (-)Ensembl
RefSeq Acc Id: ENST00000503884   ⟹   ENSP00000423860
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,963,076 - 15,984,303 (-)Ensembl
RefSeq Acc Id: ENST00000504842
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,075,975 - 16,080,700 (-)Ensembl
RefSeq Acc Id: ENST00000505450   ⟹   ENSP00000426090
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,228 - 16,084,378 (-)Ensembl
RefSeq Acc Id: ENST00000508167   ⟹   ENSP00000427346
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,230 - 16,083,732 (-)Ensembl
RefSeq Acc Id: ENST00000508322   ⟹   ENSP00000425927
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,075,734 - 16,083,465 (-)Ensembl
RefSeq Acc Id: ENST00000508940   ⟹   ENSP00000422704
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,075,786 - 16,083,465 (-)Ensembl
RefSeq Acc Id: ENST00000510224   ⟹   ENSP00000426809
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,234 - 16,083,701 (-)Ensembl
RefSeq Acc Id: ENST00000511153   ⟹   ENSP00000424569
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,003,267 - 16,075,778 (-)Ensembl
RefSeq Acc Id: ENST00000511270
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,985,511 - 15,986,037 (-)Ensembl
RefSeq Acc Id: ENST00000512304
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,076,566 - 16,080,700 (-)Ensembl
RefSeq Acc Id: ENST00000513108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,075,999 - 16,080,688 (-)Ensembl
RefSeq Acc Id: ENST00000513448
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,230 - 15,971,945 (-)Ensembl
RefSeq Acc Id: ENST00000513946   ⟹   ENSP00000424738
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,258 - 16,083,704 (-)Ensembl
RefSeq Acc Id: ENST00000514693
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,076,441 - 16,080,677 (-)Ensembl
RefSeq Acc Id: ENST00000514967   ⟹   ENSP00000423793
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl416,075,864 - 16,082,608 (-)Ensembl
RefSeq Acc Id: ENST00000539194   ⟹   ENSP00000443620
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,968,446 - 16,083,473 (-)Ensembl
RefSeq Acc Id: ENST00000540805   ⟹   ENSP00000438045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,969,092 - 16,075,906 (-)Ensembl
RefSeq Acc Id: ENST00000675377   ⟹   ENSP00000502545
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,971,067 - 16,075,906 (-)Ensembl
RefSeq Acc Id: ENST00000675613   ⟹   ENSP00000501741
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl415,971,067 - 16,075,906 (-)Ensembl
RefSeq Acc Id: NM_001145847   ⟹   NP_001139319
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,083,545 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,455 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145848   ⟹   NP_001139320
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,083,574 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145849   ⟹   NP_001139321
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,076,118 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,075,692 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,057,846 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145850   ⟹   NP_001139322
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,075,692 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145851   ⟹   NP_001139323
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,076,118 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,075,692 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,057,846 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001145852   ⟹   NP_001139324
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,075,692 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,455 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371406   ⟹   NP_001358335
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371407   ⟹   NP_001358336
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001371408   ⟹   NP_001358337
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
Sequence:
RefSeq Acc Id: NM_006017   ⟹   NP_006008
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
Build 36415,578,955 - 15,686,664 (-)NCBI Archive
HuRef415,319,438 - 15,435,190 (-)ENTREZGENE
CHM1_1415,967,639 - 16,075,692 (-)NCBI
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248195   ⟹   XP_005248252
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
Sequence:
RefSeq Acc Id: XM_005248196   ⟹   XP_005248253
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
GRCh37415,969,849 - 16,085,723 (-)NCBI
Sequence:
RefSeq Acc Id: XM_006713974   ⟹   XP_006714037
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,048,913 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513893   ⟹   XP_011512195
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513894   ⟹   XP_011512196
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513895   ⟹   XP_011512197
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513897   ⟹   XP_011512199
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513900   ⟹   XP_011512202
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513902   ⟹   XP_011512204
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_011513903   ⟹   XP_011512205
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,048,915 (-)NCBI
Sequence:
RefSeq Acc Id: XM_017008800   ⟹   XP_016864289
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,979,926 - 16,084,023 (-)NCBI
Sequence:
RefSeq Acc Id: XM_047416370   ⟹   XP_047272326
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
RefSeq Acc Id: XM_047416372   ⟹   XP_047272328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
RefSeq Acc Id: XM_047416373   ⟹   XP_047272329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
RefSeq Acc Id: XM_047416374   ⟹   XP_047272330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,084,023 (-)NCBI
RefSeq Acc Id: XM_047416375   ⟹   XP_047272331
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
RefSeq Acc Id: XM_047416376   ⟹   XP_047272332
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
RefSeq Acc Id: XM_047416377   ⟹   XP_047272333
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
RefSeq Acc Id: XM_047416378   ⟹   XP_047272334
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,729 (-)NCBI
RefSeq Acc Id: XM_047416379   ⟹   XP_047272335
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38415,968,228 - 16,083,336 (-)NCBI
RefSeq Acc Id: XM_054351160   ⟹   XP_054207135
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,455 (-)NCBI
RefSeq Acc Id: XM_054351161   ⟹   XP_054207136
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,058,388 (-)NCBI
RefSeq Acc Id: XM_054351162   ⟹   XP_054207137
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351163   ⟹   XP_054207138
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351164   ⟹   XP_054207139
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,062,494 (-)NCBI
RefSeq Acc Id: XM_054351165   ⟹   XP_054207140
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,102,751 (-)NCBI
RefSeq Acc Id: XM_054351166   ⟹   XP_054207141
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351167   ⟹   XP_054207142
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351168   ⟹   XP_054207143
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,355 (-)NCBI
RefSeq Acc Id: XM_054351169   ⟹   XP_054207144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,107,700 (-)NCBI
RefSeq Acc Id: XM_054351170   ⟹   XP_054207145
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
RefSeq Acc Id: XM_054351171   ⟹   XP_054207146
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351172   ⟹   XP_054207147
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351173   ⟹   XP_054207148
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
RefSeq Acc Id: XM_054351174   ⟹   XP_054207149
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,455 (-)NCBI
RefSeq Acc Id: XM_054351175   ⟹   XP_054207150
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,961,628 - 16,065,749 (-)NCBI
RefSeq Acc Id: XM_054351176   ⟹   XP_054207151
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
RefSeq Acc Id: XM_054351177   ⟹   XP_054207152
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,455 (-)NCBI
RefSeq Acc Id: XM_054351178   ⟹   XP_054207153
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
RefSeq Acc Id: XM_054351179   ⟹   XP_054207154
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,455 (-)NCBI
RefSeq Acc Id: XM_054351180   ⟹   XP_054207155
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,060,027 (-)NCBI
RefSeq Acc Id: XM_054351181   ⟹   XP_054207156
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,062 (-)NCBI
RefSeq Acc Id: XM_054351182   ⟹   XP_054207157
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,065,749 (-)NCBI
RefSeq Acc Id: XM_054351183   ⟹   XP_054207158
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,064,312 (-)NCBI
RefSeq Acc Id: XM_054351184   ⟹   XP_054207159
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,030,645 (-)NCBI
RefSeq Acc Id: XM_054351185   ⟹   XP_054207160
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.0415,949,919 - 16,030,643 (-)NCBI
Protein Sequences
Protein RefSeqs NP_001139319 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139320 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139321 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139322 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139323 (Get FASTA)   NCBI Sequence Viewer  
  NP_001139324 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358335 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358336 (Get FASTA)   NCBI Sequence Viewer  
  NP_001358337 (Get FASTA)   NCBI Sequence Viewer  
  NP_006008 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248252 (Get FASTA)   NCBI Sequence Viewer  
  XP_005248253 (Get FASTA)   NCBI Sequence Viewer  
  XP_006714037 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512195 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512196 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512197 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512199 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512202 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512204 (Get FASTA)   NCBI Sequence Viewer  
  XP_011512205 (Get FASTA)   NCBI Sequence Viewer  
  XP_016864289 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272326 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272328 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272329 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272330 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272331 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272332 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272333 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272334 (Get FASTA)   NCBI Sequence Viewer  
  XP_047272335 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207135 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207136 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207137 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207138 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207139 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207140 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207141 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207142 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207143 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207144 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207145 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207146 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207147 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207148 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207149 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207150 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207151 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207152 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207153 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207154 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207155 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207156 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207157 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207158 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207159 (Get FASTA)   NCBI Sequence Viewer  
  XP_054207160 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAB92514 (Get FASTA)   NCBI Sequence Viewer  
  AAH12089 (Get FASTA)   NCBI Sequence Viewer  
  AAM33415 (Get FASTA)   NCBI Sequence Viewer  
  AAO15307 (Get FASTA)   NCBI Sequence Viewer  
  AAS19705 (Get FASTA)   NCBI Sequence Viewer  
  AAS19706 (Get FASTA)   NCBI Sequence Viewer  
  AAS19707 (Get FASTA)   NCBI Sequence Viewer  
  AAS19708 (Get FASTA)   NCBI Sequence Viewer  
  AAS19709 (Get FASTA)   NCBI Sequence Viewer  
  AER93376 (Get FASTA)   NCBI Sequence Viewer  
  AER93377 (Get FASTA)   NCBI Sequence Viewer  
  BAF98780 (Get FASTA)   NCBI Sequence Viewer  
  BAG51316 (Get FASTA)   NCBI Sequence Viewer  
  BAG51317 (Get FASTA)   NCBI Sequence Viewer  
  BAG52133 (Get FASTA)   NCBI Sequence Viewer  
  CAE83895 (Get FASTA)   NCBI Sequence Viewer  
  CAE90442 (Get FASTA)   NCBI Sequence Viewer  
  EAW92750 (Get FASTA)   NCBI Sequence Viewer  
  EAW92751 (Get FASTA)   NCBI Sequence Viewer  
  EAW92752 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000415481
  ENSP00000415481.2
  ENSP00000422704.1
  ENSP00000423793.1
  ENSP00000423860.1
  ENSP00000424569.1
  ENSP00000424738.2
  ENSP00000425927.1
  ENSP00000426090
  ENSP00000426090.1
  ENSP00000426809
  ENSP00000426809.1
  ENSP00000427346
  ENSP00000427346.1
  ENSP00000438045
  ENSP00000438045.2
  ENSP00000443620
  ENSP00000443620.1
  ENSP00000501741
  ENSP00000501741.1
  ENSP00000502545
  ENSP00000502545.1
GenBank Protein O43490 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001139320   ⟸   NM_001145848
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139319   ⟸   NM_001145847
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139324   ⟸   NM_001145852
- Peptide Label: isoform 4 precursor
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139323   ⟸   NM_001145851
- Peptide Label: isoform 5 precursor
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139322   ⟸   NM_001145850
- Peptide Label: isoform 6 precursor
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001139321   ⟸   NM_001145849
- Peptide Label: isoform 7 precursor
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_006008   ⟸   NM_006017
- Peptide Label: isoform 1 precursor
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248253   ⟸   XM_005248196
- Peptide Label: isoform X7
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_005248252   ⟸   XM_005248195
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_006714037   ⟸   XM_006713974
- Peptide Label: isoform X9
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512204   ⟸   XM_011513902
- Peptide Label: isoform X5
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512202   ⟸   XM_011513900
- Peptide Label: isoform X3
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512195   ⟸   XM_011513893
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512197   ⟸   XM_011513895
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512199   ⟸   XM_011513897
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512196   ⟸   XM_011513894
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011512205   ⟸   XM_011513903
- Peptide Label: isoform X8
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016864289   ⟸   XM_017008800
- Peptide Label: isoform X4
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001358337   ⟸   NM_001371408
- Peptide Label: isoform 4 precursor
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358335   ⟸   NM_001371406
- Peptide Label: isoform 2 precursor
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001358336   ⟸   NM_001371407
- Peptide Label: isoform 4 precursor
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: ENSP00000423860   ⟸   ENST00000503884
RefSeq Acc Id: ENSP00000426090   ⟸   ENST00000505450
RefSeq Acc Id: ENSP00000425927   ⟸   ENST00000508322
RefSeq Acc Id: ENSP00000427346   ⟸   ENST00000508167
RefSeq Acc Id: ENSP00000422704   ⟸   ENST00000508940
RefSeq Acc Id: ENSP00000426809   ⟸   ENST00000510224
RefSeq Acc Id: ENSP00000443620   ⟸   ENST00000539194
RefSeq Acc Id: ENSP00000424569   ⟸   ENST00000511153
RefSeq Acc Id: ENSP00000415481   ⟸   ENST00000447510
RefSeq Acc Id: ENSP00000424738   ⟸   ENST00000513946
RefSeq Acc Id: ENSP00000423793   ⟸   ENST00000514967
RefSeq Acc Id: ENSP00000438045   ⟸   ENST00000540805
RefSeq Acc Id: ENSP00000501741   ⟸   ENST00000675613
RefSeq Acc Id: ENSP00000502545   ⟸   ENST00000675377
RefSeq Acc Id: XP_047272330   ⟸   XM_047416374
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272334   ⟸   XM_047416378
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272333   ⟸   XM_047416377
- Peptide Label: isoform X5
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272332   ⟸   XM_047416376
- Peptide Label: isoform X3
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272329   ⟸   XM_047416373
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272335   ⟸   XM_047416379
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272326   ⟸   XM_047416370
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272331   ⟸   XM_047416375
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_047272328   ⟸   XM_047416372
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207144   ⟸   XM_054351169
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207140   ⟸   XM_054351165
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207157   ⟸   XM_054351182
- Peptide Label: isoform X7
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207153   ⟸   XM_054351178
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207151   ⟸   XM_054351176
- Peptide Label: isoform X5
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207148   ⟸   XM_054351173
- Peptide Label: isoform X3
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207145   ⟸   XM_054351170
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207154   ⟸   XM_054351179
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207152   ⟸   XM_054351177
- Peptide Label: isoform X5
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207149   ⟸   XM_054351174
- Peptide Label: isoform X3
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207135   ⟸   XM_054351160
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207143   ⟸   XM_054351168
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207137   ⟸   XM_054351162
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207156   ⟸   XM_054351181
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207142   ⟸   XM_054351167
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207138   ⟸   XM_054351163
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207146   ⟸   XM_054351171
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207147   ⟸   XM_054351172
- Peptide Label: isoform X2
- UniProtKB: A0A0A0N0M1 (UniProtKB/TrEMBL),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207141   ⟸   XM_054351166
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207158   ⟸   XM_054351183
- Peptide Label: isoform X7
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207139   ⟸   XM_054351164
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207155   ⟸   XM_054351180
- Peptide Label: isoform X6
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207136   ⟸   XM_054351161
- Peptide Label: isoform X1
- UniProtKB: Q6SV53 (UniProtKB/Swiss-Prot),   Q6SV52 (UniProtKB/Swiss-Prot),   Q6SV51 (UniProtKB/Swiss-Prot),   Q6SV50 (UniProtKB/Swiss-Prot),   Q6SV49 (UniProtKB/Swiss-Prot),   O43490 (UniProtKB/Swiss-Prot),   Q96EN6 (UniProtKB/Swiss-Prot),   B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207159   ⟸   XM_054351184
- Peptide Label: isoform X8
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207160   ⟸   XM_054351185
- Peptide Label: isoform X9
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054207150   ⟸   XM_054351175
- Peptide Label: isoform X4
- UniProtKB: B3KNF4 (UniProtKB/TrEMBL),   B3KQS1 (UniProtKB/TrEMBL)

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O43490-F1-model_v2 AlphaFold O43490 1-865 view protein structure

Promoters
RGD ID:6867080
Promoter ID:EPDNEW_H6705
Type:initiation region
Name:PROM1_3
Description:prominin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6706  EPDNEW_H6707  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,076,180 - 16,076,240EPDNEW
RGD ID:6867082
Promoter ID:EPDNEW_H6706
Type:initiation region
Name:PROM1_2
Description:prominin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6705  EPDNEW_H6707  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,083,701 - 16,083,761EPDNEW
RGD ID:6867084
Promoter ID:EPDNEW_H6707
Type:initiation region
Name:PROM1_1
Description:prominin 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H6705  EPDNEW_H6706  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh38416,084,023 - 16,084,083EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:9454 AgrOrtholog
COSMIC PROM1 COSMIC
Ensembl Genes ENSG00000007062 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000447510 ENTREZGENE
  ENST00000447510.7 UniProtKB/Swiss-Prot
  ENST00000503884.5 UniProtKB/TrEMBL
  ENST00000505450 ENTREZGENE
  ENST00000505450.5 UniProtKB/Swiss-Prot
  ENST00000508167 ENTREZGENE
  ENST00000508167.5 UniProtKB/Swiss-Prot
  ENST00000508322.1 UniProtKB/TrEMBL
  ENST00000508940.1 UniProtKB/TrEMBL
  ENST00000510224 ENTREZGENE
  ENST00000510224.5 UniProtKB/Swiss-Prot
  ENST00000511153.5 UniProtKB/TrEMBL
  ENST00000513946.2 UniProtKB/TrEMBL
  ENST00000514967.5 UniProtKB/TrEMBL
  ENST00000539194 ENTREZGENE
  ENST00000539194.6 UniProtKB/Swiss-Prot
  ENST00000540805 ENTREZGENE
  ENST00000540805.6 UniProtKB/Swiss-Prot
  ENST00000675377 ENTREZGENE
  ENST00000675377.1 UniProtKB/Swiss-Prot
  ENST00000675613 ENTREZGENE
  ENST00000675613.1 UniProtKB/Swiss-Prot
GTEx ENSG00000007062 GTEx
HGNC ID HGNC:9454 ENTREZGENE
Human Proteome Map PROM1 Human Proteome Map
InterPro Prominin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8842 UniProtKB/Swiss-Prot
NCBI Gene 8842 ENTREZGENE
OMIM 604365 OMIM
PANTHER PROMININ-1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR22730 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Prominin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA33807 PharmGKB
UniProt A0A0A0N0M1 ENTREZGENE, UniProtKB/TrEMBL
  B3KNF4 ENTREZGENE, UniProtKB/TrEMBL
  B3KQS1 ENTREZGENE, UniProtKB/TrEMBL
  D6RBI0_HUMAN UniProtKB/TrEMBL
  D6RCC3_HUMAN UniProtKB/TrEMBL
  D6RIF3_HUMAN UniProtKB/TrEMBL
  H0Y9D4_HUMAN UniProtKB/TrEMBL
  H0Y9M7_HUMAN UniProtKB/TrEMBL
  H0Y9Q5_HUMAN UniProtKB/TrEMBL
  O43490 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6SV49 ENTREZGENE
  Q6SV50 ENTREZGENE
  Q6SV51 ENTREZGENE
  Q6SV52 ENTREZGENE
  Q6SV53 ENTREZGENE
  Q96EN6 ENTREZGENE
UniProt Secondary Q6SV49 UniProtKB/Swiss-Prot
  Q6SV50 UniProtKB/Swiss-Prot
  Q6SV51 UniProtKB/Swiss-Prot
  Q6SV52 UniProtKB/Swiss-Prot
  Q6SV53 UniProtKB/Swiss-Prot
  Q96EN6 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-05 PROM1  prominin 1  STGD4  Stargardt disease 4 (autosomal dominant)  Data merged from RGD:1346905 737654 PROVISIONAL
2016-03-29 PROM1  prominin 1  MCDR2  macular dystrophy, retinal 2  Data merged from RGD:1345546 737654 PROVISIONAL