PRSS23 (serine protease 23) - Rat Genome Database

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Gene: PRSS23 (serine protease 23) Homo sapiens
Analyze
Symbol: PRSS23
Name: serine protease 23
RGD ID: 1346659
HGNC Page HGNC:14370
Description: Predicted to enable serine-type endopeptidase activity. Predicted to be involved in proteolysis. Located in nucleus.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: MGC5107; protease, serine 23; protease, serine, 23; putative secreted protein Zsig13; serine protease, umbilical endothelium; SIG13; SPUVE; ZSIG13
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
GRCh381186,791,071 - 86,952,910 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1186,791,059 - 86,952,910 (+)EnsemblGRCh38hg38GRCh38
GRCh371186,502,113 - 86,663,952 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361186,189,139 - 86,199,923 (+)NCBINCBI36Build 36hg18NCBI36
Build 341186,189,210 - 86,199,919NCBI
Celera1183,822,885 - 83,833,669 (+)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1182,800,718 - 82,811,496 (+)NCBIHuRef
CHM1_11186,397,209 - 86,407,989 (+)NCBICHM1_1
T2T-CHM13v2.01186,731,821 - 86,893,752 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Disease Annotations     Click to see Annotation Detail View

Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(1->4)-beta-D-glucan  (ISO)
1,1,1-trichloro-2,2-bis(4-hydroxyphenyl)ethane  (EXP)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP,ISO)
17beta-estradiol  (EXP)
2,2',4,4',5,5'-hexachlorobiphenyl  (ISO)
2,2',5,5'-tetrachlorobiphenyl  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
3,3',5,5'-tetrabromobisphenol A  (ISO)
3,4-dichloroaniline  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
8-Br-cAMP  (EXP)
acetamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP)
amitrole  (ISO)
avobenzone  (EXP)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bis(2-ethylhexyl) phthalate  (EXP)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
buspirone  (ISO)
butan-1-ol  (EXP)
cadmium atom  (EXP)
cadmium sulfate  (ISO)
calcitriol  (EXP)
carbamazepine  (EXP)
carbon nanotube  (ISO)
choline  (ISO)
chrysene  (ISO)
cisplatin  (ISO)
clomiphene  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
coumestrol  (EXP)
crocidolite asbestos  (EXP)
CU-O LINKAGE  (EXP)
Cuprizon  (ISO)
cyclosporin A  (EXP)
cylindrospermopsin  (EXP)
daidzein  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dimethylarsinous acid  (EXP)
dioxygen  (ISO)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
Enterolactone  (EXP)
entinostat  (EXP)
estrone  (EXP)
ethanol  (EXP,ISO)
fenamidone  (ISO)
fluoxetine  (ISO)
folic acid  (ISO)
fonofos  (EXP)
formaldehyde  (EXP)
fulvestrant  (EXP)
genistein  (EXP)
gentamycin  (ISO)
glafenine  (ISO)
glycine betaine  (ISO)
hexestrol  (EXP)
L-methionine  (ISO)
leflunomide  (ISO)
manganese(II) chloride  (ISO)
mercury dibromide  (EXP)
mestranol  (EXP)
methimazole  (ISO)
methoxyacetic acid  (EXP)
methylmercury chloride  (EXP)
methylparaben  (EXP)
monosodium L-glutamate  (ISO)
N-nitrosodiethylamine  (ISO)
nefazodone  (ISO)
nickel atom  (EXP)
nimesulide  (ISO)
oxaliplatin  (ISO)
ozone  (ISO)
p-chloromercuribenzoic acid  (EXP)
palbociclib  (EXP)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
parathion  (EXP)
PCB138  (ISO)
perfluorononanoic acid  (EXP)
perfluorooctane-1-sulfonic acid  (EXP,ISO)
perfluorooctanoic acid  (EXP)
phenobarbital  (EXP,ISO)
phenylmercury acetate  (EXP)
phytoestrogen  (EXP)
pirinixic acid  (EXP,ISO)
potassium chromate  (EXP)
potassium dichromate  (ISO)
progesterone  (EXP)
raloxifene  (EXP)
resveratrol  (EXP)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP)
silver atom  (ISO)
silver(0)  (ISO)
sodium arsenite  (EXP)
sulfadimethoxine  (ISO)
sulindac sulfide  (EXP)
sunitinib  (EXP)
terbufos  (EXP)
testosterone  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thapsigargin  (EXP,ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
toluene  (ISO)
topotecan  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
triclosan  (EXP)
triphenyl phosphate  (ISO)
trovafloxacin  (ISO)
valproic acid  (EXP)
vancomycin  (ISO)
vinclozolin  (ISO)
vorinostat  (EXP)
zearalenone  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
proteolysis  (IEA)

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
2. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
3. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
4. Transcriptomic characteristics of bronchoalveolar lavage fluid and peripheral blood mononuclear cells in COVID-19 patients. Xiong Y, etal., Emerg Microbes Infect. 2020 Dec;9(1):761-770. doi: 10.1080/22221751.2020.1747363.
Additional References at PubMed
PMID:11076863   PMID:11230166   PMID:11256614   PMID:12477932   PMID:12878157   PMID:12975309   PMID:15342556   PMID:15489334   PMID:15489336   PMID:16169070   PMID:16303743   PMID:16344560  
PMID:16381901   PMID:16461635   PMID:16712791   PMID:16870946   PMID:19199708   PMID:19322201   PMID:20532202   PMID:21832049   PMID:22291950   PMID:23353556   PMID:23376485   PMID:23648065  
PMID:26186194   PMID:26496610   PMID:28514442   PMID:30021884   PMID:30769097   PMID:31586073   PMID:32296183   PMID:33961781   PMID:34270841   PMID:34732716   PMID:35696571   PMID:36189305  
PMID:36526897  


Genomics

Comparative Map Data
PRSS23
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381186,791,071 - 86,952,910 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1186,791,059 - 86,952,910 (+)EnsemblGRCh38hg38GRCh38
GRCh371186,502,113 - 86,663,952 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361186,189,139 - 86,199,923 (+)NCBINCBI36Build 36hg18NCBI36
Build 341186,189,210 - 86,199,919NCBI
Celera1183,822,885 - 83,833,669 (+)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1182,800,718 - 82,811,496 (+)NCBIHuRef
CHM1_11186,397,209 - 86,407,989 (+)NCBICHM1_1
T2T-CHM13v2.01186,731,821 - 86,893,752 (+)NCBIT2T-CHM13v2.0
Prss23
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39789,156,988 - 89,176,399 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl789,156,991 - 89,176,395 (-)EnsemblGRCm39 Ensembl
GRCm38789,507,783 - 89,527,187 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl789,507,783 - 89,527,187 (-)EnsemblGRCm38mm10GRCm38
MGSCv37796,656,295 - 96,666,096 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36789,382,977 - 89,392,744 (-)NCBIMGSCv36mm8
Celera786,863,519 - 86,873,318 (-)NCBICelera
Cytogenetic Map7D3NCBI
cM Map749.9NCBI
Prss23
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81152,815,301 - 152,835,005 (-)NCBIGRCr8
mRatBN7.21143,402,725 - 143,422,182 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1143,401,396 - 143,422,091 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1151,348,875 - 151,357,260 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01158,525,264 - 158,533,649 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01151,399,177 - 151,407,562 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01153,732,528 - 153,742,111 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1153,732,532 - 153,752,541 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01160,037,248 - 160,056,629 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41146,081,552 - 146,089,928 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11146,159,962 - 146,168,334 (-)NCBI
Celera1141,654,333 - 141,662,709 (-)NCBICelera
Cytogenetic Map1q32NCBI
Prss23
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554146,202,383 - 6,213,521 (-)EnsemblChiLan1.0
ChiLan1.0NW_0049554146,202,383 - 6,213,521 (-)NCBIChiLan1.0ChiLan1.0
PRSS23
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2987,722,921 - 87,731,607 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11188,646,843 - 88,782,831 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01181,855,594 - 81,866,321 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11185,454,400 - 85,474,188 (+)NCBIpanpan1.1PanPan1.1panPan2
PRSS23
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12112,792,212 - 12,813,067 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2112,793,373 - 12,803,136 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2112,658,486 - 12,678,952 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02112,975,225 - 12,995,800 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2112,975,421 - 12,986,206 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12112,761,501 - 12,771,319 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02112,834,999 - 12,853,659 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02112,889,347 - 12,900,934 (-)NCBIUU_Cfam_GSD_1.0
Prss23
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494772,961,118 - 72,963,599 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649814,560,765 - 14,561,913 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649814,560,730 - 14,563,195 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
PRSS23
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl920,603,733 - 20,625,139 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1920,603,676 - 20,623,358 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2922,893,335 - 22,913,017 (+)NCBISscrofa10.2Sscrofa10.2susScr3
PRSS23
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1178,058,332 - 78,067,030 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl178,065,492 - 78,066,643 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604347,654,998 - 47,665,912 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Prss23
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248453,167,528 - 3,175,781 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248453,164,746 - 3,176,328 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in PRSS23
326 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012193.4(FZD4):c.1218TGC[1] (p.Ala408del) microsatellite not provided [RCV000519683] Chr11:86951533..86951535 [GRCh38]
Chr11:86662575..86662577 [GRCh37]
Chr11:11q14.2
likely pathogenic|uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
NM_012193.4(FZD4):c.1508C>T (p.Thr503Met) single nucleotide variant not provided [RCV001312865] Chr11:86951248 [GRCh38]
Chr11:86662290 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1382A>G (p.Asn461Ser) single nucleotide variant not provided [RCV001348583] Chr11:86951374 [GRCh38]
Chr11:86662416 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
NM_012193.4(FZD4):c.729C>T (p.Ile243=) single nucleotide variant not provided [RCV000175839] Chr11:86952027 [GRCh38]
Chr11:86663069 [GRCh37]
Chr11:11q14.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012193.4(FZD4):c.1025T>C (p.Met342Thr) single nucleotide variant not provided [RCV000175840] Chr11:86951731 [GRCh38]
Chr11:86662773 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.362G>T (p.Cys121Phe) single nucleotide variant not provided [RCV000122532] Chr11:86952394 [GRCh38]
Chr11:86663436 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) deletion Exudative vitreoretinopathy 1 [RCV000005818]|not provided [RCV000478323] Chr11:86951272..86951277 [GRCh38]
Chr11:86662314..86662319 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) microsatellite Exudative vitreoretinopathy 1 [RCV000005819]|not provided [RCV001091739] Chr11:86951254..86951255 [GRCh38]
Chr11:86662296..86662297 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000005820]|Exudative vitreoretinopathy, digenic [RCV000005821] Chr11:86951506 [GRCh38]
Chr11:86662548 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1024A>G (p.Met342Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000005822] Chr11:86951732 [GRCh38]
Chr11:86662774 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000005823] Chr11:86951751 [GRCh38]
Chr11:86662793 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.766A>G (p.Ile256Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001262378]|Retinopathy of prematurity [RCV000005824]|not provided [RCV001493514] Chr11:86951990 [GRCh38]
Chr11:86663032 [GRCh37]
Chr11:11q14.2
pathogenic|likely benign
NM_012193.4(FZD4):c.288del (p.Phe97fs) deletion not provided [RCV000254871] Chr11:86952468 [GRCh38]
Chr11:86663510 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) microsatellite Exudative retinopathy [RCV000210225]|Exudative vitreoretinopathy 1 [RCV002250600]|not provided [RCV000598865] Chr11:86951471..86951474 [GRCh38]
Chr11:86662513..86662516 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.313A>G (p.Met105Val) single nucleotide variant Atrophia bulborum hereditaria [RCV001002698]|Exudative retinopathy [RCV000210241]|Exudative vitreoretinopathy 1 [RCV000763285]|Familial exudative vitreoretinopathy [RCV000825614]|Retinal dystrophy [RCV001073502]|not provided [RCV000255410] Chr11:86952443 [GRCh38]
Chr11:86663485 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.961G>A (p.Val321Ile) single nucleotide variant Retinal dystrophy [RCV000225370] Chr11:86951795 [GRCh38]
Chr11:86662837 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2542T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000282517] Chr11:86948600 [GRCh38]
Chr11:86659642 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.1405G>A (p.Ala469Thr) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000299714]|not provided [RCV000908556] Chr11:86951351 [GRCh38]
Chr11:86662393 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.502C>T (p.Pro168Ser) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000368489]|not provided [RCV001512894]|not specified [RCV000455735] Chr11:86952254 [GRCh38]
Chr11:86663296 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4883G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000265339] Chr11:86946259 [GRCh38]
Chr11:86657301 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4069G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000302551] Chr11:86947073 [GRCh38]
Chr11:86658115 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*3814C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000286719] Chr11:86947328 [GRCh38]
Chr11:86658370 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*2581G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000372772] Chr11:86948561 [GRCh38]
Chr11:86659603 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2971T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000270259] Chr11:86948171 [GRCh38]
Chr11:86659213 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*3909TTTG[6] microsatellite Familial exudative vitreoretinopathy [RCV000287750] Chr11:86947202..86947209 [GRCh38]
Chr11:86658244..86658251 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1121G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000324703] Chr11:86950021 [GRCh38]
Chr11:86661063 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2956_*2960delinsAGTTAAAAGC indel Familial exudative vitreoretinopathy [RCV000325052] Chr11:86948182..86948186 [GRCh38]
Chr11:86659224..86659228 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3574C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000399410] Chr11:86947568 [GRCh38]
Chr11:86658610 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2639A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000286550] Chr11:86948503 [GRCh38]
Chr11:86659545 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*5451G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000306458] Chr11:86945691 [GRCh38]
Chr11:86656733 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*799A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000375036] Chr11:86950343 [GRCh38]
Chr11:86661385 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*203A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000287669]|not provided [RCV001582941] Chr11:86950939 [GRCh38]
Chr11:86661981 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2779A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000271054] Chr11:86948363 [GRCh38]
Chr11:86659405 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3888G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000378738] Chr11:86947254 [GRCh38]
Chr11:86658296 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2496G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000401043] Chr11:86948646 [GRCh38]
Chr11:86659688 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*764T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000330816] Chr11:86950378 [GRCh38]
Chr11:86661420 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.1517A>G (p.Lys506Arg) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000354677]|not provided [RCV002522214] Chr11:86951239 [GRCh38]
Chr11:86662281 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*2302A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000293150] Chr11:86948840 [GRCh38]
Chr11:86659882 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1440A>G (p.Lys480=) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000259854]|not provided [RCV001248318] Chr11:86951316 [GRCh38]
Chr11:86662358 [GRCh37]
Chr11:11q14.2
benign|likely benign|uncertain significance
NM_012193.4(FZD4):c.*3700A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000334841] Chr11:86947442 [GRCh38]
Chr11:86658484 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*5077C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000357694] Chr11:86946065 [GRCh38]
Chr11:86657107 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*3909TTTG[5] microsatellite Familial exudative vitreoretinopathy [RCV000274664] Chr11:86947202..86947213 [GRCh38]
Chr11:86658244..86658255 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4068C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000359594] Chr11:86947074 [GRCh38]
Chr11:86658116 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1481C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000359674] Chr11:86949661 [GRCh38]
Chr11:86660703 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*1050T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000360667] Chr11:86950092 [GRCh38]
Chr11:86661134 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4765T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000260223] Chr11:86946377 [GRCh38]
Chr11:86657419 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*647A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000295897] Chr11:86950495 [GRCh38]
Chr11:86661537 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*779G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000280462] Chr11:86950363 [GRCh38]
Chr11:86661405 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*947G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000261353] Chr11:86950195 [GRCh38]
Chr11:86661237 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4618G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000296685] Chr11:86946524 [GRCh38]
Chr11:86657566 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*827A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000316603] Chr11:86950315 [GRCh38]
Chr11:86661357 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000339358]|not provided [RCV001653508] Chr11:86951140 [GRCh38]
Chr11:86662182 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*1298C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000265049] Chr11:86949844 [GRCh38]
Chr11:86660886 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*4867A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000318865] Chr11:86946275 [GRCh38]
Chr11:86657317 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4018T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000262911] Chr11:86947124 [GRCh38]
Chr11:86658166 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*5282_*5283del deletion Familial exudative vitreoretinopathy [RCV000266559] Chr11:86945859..86945860 [GRCh38]
Chr11:86656901..86656902 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.*1932G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000391303] Chr11:86949210 [GRCh38]
Chr11:86660252 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000393599]|not provided [RCV001468491]|not specified [RCV002248515] Chr11:86951167 [GRCh38]
Chr11:86662209 [GRCh37]
Chr11:11q14.2
benign|likely benign|uncertain significance
NM_012193.4(FZD4):c.*3402G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000368404] Chr11:86947740 [GRCh38]
Chr11:86658782 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4335T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000348166] Chr11:86946807 [GRCh38]
Chr11:86657849 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4518C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000349348] Chr11:86946624 [GRCh38]
Chr11:86657666 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
NM_012193.4(FZD4):c.*3909TTTG[7] microsatellite Familial exudative vitreoretinopathy [RCV000327472] Chr11:86947202..86947205 [GRCh38]
Chr11:86658244..86658247 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3770A>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000398644] Chr11:86947372 [GRCh38]
Chr11:86658414 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2747dup duplication Familial exudative vitreoretinopathy [RCV000321412] Chr11:86948394..86948395 [GRCh38]
Chr11:86659436..86659437 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.304T>A (p.Tyr102Asn) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000273906] Chr11:86952452 [GRCh38]
Chr11:86663494 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*538G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000350844] Chr11:86950604 [GRCh38]
Chr11:86661646 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*4775C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000375879] Chr11:86946367 [GRCh38]
Chr11:86657409 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4196A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000400330] Chr11:86946946 [GRCh38]
Chr11:86657988 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*135C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000401326] Chr11:86951007 [GRCh38]
Chr11:86662049 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2101C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000308036] Chr11:86949041 [GRCh38]
Chr11:86660083 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4171A>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000308473] Chr11:86946971 [GRCh38]
Chr11:86658013 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*2660C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000376308] Chr11:86948482 [GRCh38]
Chr11:86659524 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2150A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000402043] Chr11:86948992 [GRCh38]
Chr11:86660034 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3909TTTG[9] microsatellite Familial exudative vitreoretinopathy [RCV000275701] Chr11:86947201..86947202 [GRCh38]
Chr11:86658243..86658244 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4079G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000406914] Chr11:86947063 [GRCh38]
Chr11:86658105 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*3197C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000408405] Chr11:86947945 [GRCh38]
Chr11:86658987 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3060del deletion Familial exudative vitreoretinopathy [RCV000314709] Chr11:86948082 [GRCh38]
Chr11:86659124 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2517A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000337504] Chr11:86948625 [GRCh38]
Chr11:86659667 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
NM_012193.4(FZD4):c.*2047C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000362704] Chr11:86949095 [GRCh38]
Chr11:86660137 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*5368C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000363511] Chr11:86945774 [GRCh38]
Chr11:86656816 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4664T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000388699] Chr11:86946478 [GRCh38]
Chr11:86657520 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=) single nucleotide variant not provided [RCV000267620] Chr11:86951562 [GRCh38]
Chr11:86662604 [GRCh37]
Chr11:11q14.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012193.4(FZD4):c.740G>A (p.Arg247Lys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV003313732] Chr11:86952016 [GRCh38]
Chr11:86663058 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001270177] Chr11:86951792 [GRCh38]
Chr11:86662834 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.*6G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000303066] Chr11:86951136 [GRCh38]
Chr11:86662178 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1541C>T (p.Ser514Phe) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000304569] Chr11:86951215 [GRCh38]
Chr11:86662257 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*154C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000347418] Chr11:86950988 [GRCh38]
Chr11:86662030 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*5250del deletion Familial exudative vitreoretinopathy [RCV000305298] Chr11:86945892 [GRCh38]
Chr11:86656934 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3909TTTG[4] microsatellite Familial exudative vitreoretinopathy [RCV000384531] Chr11:86947202..86947217 [GRCh38]
Chr11:86658244..86658259 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4678A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000317738] Chr11:86946464 [GRCh38]
Chr11:86657506 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2818G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000365774] Chr11:86948324 [GRCh38]
Chr11:86659366 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*672C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000385312] Chr11:86950470 [GRCh38]
Chr11:86661512 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4516C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000387594] Chr11:86946626 [GRCh38]
Chr11:86657668 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3042A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000369520] Chr11:86948100 [GRCh38]
Chr11:86659142 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2181C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000352749] Chr11:86948961 [GRCh38]
Chr11:86660003 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1695A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000309708] Chr11:86949447 [GRCh38]
Chr11:86660489 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2619T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000322734] Chr11:86948523 [GRCh38]
Chr11:86659565 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3746C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000298632] Chr11:86947396 [GRCh38]
Chr11:86658438 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3792A>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000339424] Chr11:86947350 [GRCh38]
Chr11:86658392 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3479C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000299641] Chr11:86947663 [GRCh38]
Chr11:86658705 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4083A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000342199] Chr11:86947059 [GRCh38]
Chr11:86658101 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4414T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000290933] Chr11:86946728 [GRCh38]
Chr11:86657770 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*345A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000397453] Chr11:86950797 [GRCh38]
Chr11:86661839 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1513C>T (p.Gln505Ter) single nucleotide variant not provided [RCV000520718] Chr11:86951243 [GRCh38]
Chr11:86662285 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.1009C>A (p.His337Asn) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111580]|not provided [RCV000593538] Chr11:86951747 [GRCh38]
Chr11:86662789 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 copy number loss See cases [RCV000448436] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21
likely pathogenic
NM_012193.4(FZD4):c.676T>C (p.Trp226Arg) single nucleotide variant not provided [RCV000478882] Chr11:86952080 [GRCh38]
Chr11:86663122 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.611G>A (p.Cys204Tyr) single nucleotide variant not provided [RCV000478908] Chr11:86952145 [GRCh38]
Chr11:86663187 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3 copy number gain See cases [RCV000512406] Chr11:85506017..86930835 [GRCh37]
Chr11:11q14.1-14.2
uncertain significance
NM_012193.4(FZD4):c.666G>A (p.Trp222Ter) single nucleotide variant not provided [RCV000627338] Chr11:86952090 [GRCh38]
Chr11:86663132 [GRCh37]
Chr11:11q14.2
pathogenic
Single allele deletion Exudative vitreoretinopathy 1 [RCV000677964] Chr11:83315294..86755595 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) copy number loss Intellectual disability [RCV000721939] Chr11:81771852..90851187 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_012193.4(FZD4):c.*522C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114892] Chr11:86950620 [GRCh38]
Chr11:86661662 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.523C>G (p.His175Asp) single nucleotide variant Inborn genetic diseases [RCV003245478] Chr11:86808166 [GRCh38]
Chr11:86519208 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*461G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114893] Chr11:86950681 [GRCh38]
Chr11:86661723 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*312C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114894] Chr11:86950830 [GRCh38]
Chr11:86661872 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.286-247TTAT[3] microsatellite not provided [RCV001575104] Chr11:86952702..86952705 [GRCh38]
Chr11:86663744..86663747 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.777T>C (p.Ser259=) single nucleotide variant not provided [RCV000905691] Chr11:86951979 [GRCh38]
Chr11:86663021 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.700A>G (p.Thr234Ala) single nucleotide variant Retinal dystrophy [RCV001075663]|not provided [RCV001303672] Chr11:86952056 [GRCh38]
Chr11:86663098 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.534_580dup (p.Val194fs) duplication not provided [RCV001038525] Chr11:86952175..86952176 [GRCh38]
Chr11:86663217..86663218 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.457G>A (p.Asp153Asn) single nucleotide variant not provided [RCV001046957] Chr11:86952299 [GRCh38]
Chr11:86663341 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*173T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114895] Chr11:86950969 [GRCh38]
Chr11:86662011 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2182G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114777] Chr11:86948960 [GRCh38]
Chr11:86660002 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2091A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114778] Chr11:86949051 [GRCh38]
Chr11:86660093 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3974C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114665] Chr11:86947168 [GRCh38]
Chr11:86658210 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1128G>T (p.Leu376Phe) single nucleotide variant not provided [RCV001061399] Chr11:86951628 [GRCh38]
Chr11:86662670 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.829C>T (p.Arg277Trp) single nucleotide variant Inborn genetic diseases [RCV002554383]|not provided [RCV001055232] Chr11:86951927 [GRCh38]
Chr11:86662969 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.352G>A (p.Gly118Ser) single nucleotide variant not provided [RCV001213776] Chr11:86952404 [GRCh38]
Chr11:86663446 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*4386T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113300] Chr11:86946756 [GRCh38]
Chr11:86657798 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1057G>C (p.Ala353Pro) single nucleotide variant not provided [RCV001225752] Chr11:86951699 [GRCh38]
Chr11:86662741 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.811G>T (p.Val271Phe) single nucleotide variant not provided [RCV001227305] Chr11:86951945 [GRCh38]
Chr11:86662987 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1567G>C (p.Gly523Arg) single nucleotide variant Exudative vitreoretinopathy 1 [RCV002466634]|not provided [RCV001217472] Chr11:86951189 [GRCh38]
Chr11:86662231 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.661dup (p.Ile221fs) duplication not provided [RCV001237720] Chr11:86952094..86952095 [GRCh38]
Chr11:86663136..86663137 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.*3433T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111384] Chr11:86947709 [GRCh38]
Chr11:86658751 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3052C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111385] Chr11:86948090 [GRCh38]
Chr11:86659132 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.379C>T (p.Arg127Cys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111581]|not provided [RCV001209730] Chr11:86952377 [GRCh38]
Chr11:86663419 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.542G>A (p.Cys181Tyr) single nucleotide variant not provided [RCV001091740] Chr11:86952214 [GRCh38]
Chr11:86663256 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.*5256G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001108931] Chr11:86945886 [GRCh38]
Chr11:86656928 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3686C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109036] Chr11:86947456 [GRCh38]
Chr11:86658498 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2087C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109146] Chr11:86949055 [GRCh38]
Chr11:86660097 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2051G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109147] Chr11:86949091 [GRCh38]
Chr11:86660133 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1350T>A (p.Cys450Ter) single nucleotide variant not provided [RCV003318028] Chr11:86951406 [GRCh38]
Chr11:86662448 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.391G>A (p.Val131Ile) single nucleotide variant not provided [RCV001242742] Chr11:86952365 [GRCh38]
Chr11:86663407 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*798G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113482] Chr11:86950344 [GRCh38]
Chr11:86661386 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.678G>A (p.Trp226Ter) single nucleotide variant not provided [RCV001209731] Chr11:86952078 [GRCh38]
Chr11:86663120 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.461A>G (p.His154Arg) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000985230] Chr11:86952295 [GRCh38]
Chr11:86663337 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.2(chr11:86399065-87131796)x3 copy number gain not provided [RCV002473522] Chr11:86399065..87131796 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1 copy number loss not provided [RCV001006422] Chr11:83530179..87059742 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_012193.4(FZD4):c.614del (p.Gly205fs) deletion not provided [RCV001008536] Chr11:86952142 [GRCh38]
Chr11:86663184 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.*1459A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111488] Chr11:86949683 [GRCh38]
Chr11:86660725 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1397A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111489] Chr11:86949745 [GRCh38]
Chr11:86660787 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1252C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111490] Chr11:86949890 [GRCh38]
Chr11:86660932 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3639A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109037] Chr11:86947503 [GRCh38]
Chr11:86658545 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*3618G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109038] Chr11:86947524 [GRCh38]
Chr11:86658566 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*701C>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113483] Chr11:86950441 [GRCh38]
Chr11:86661483 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3775C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109035] Chr11:86947367 [GRCh38]
Chr11:86658409 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*128G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109248] Chr11:86951014 [GRCh38]
Chr11:86662056 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*4756G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111287] Chr11:86946386 [GRCh38]
Chr11:86657428 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.349T>C (p.Cys117Arg) single nucleotide variant Familial exudative vitreoretinopathy [RCV001003034] Chr11:86952407 [GRCh38]
Chr11:86663449 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.617A>G (p.Tyr206Cys) single nucleotide variant not provided [RCV001063545] Chr11:86952139 [GRCh38]
Chr11:86663181 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.718A>G (p.Thr240Ala) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001196145] Chr11:86952038 [GRCh38]
Chr11:86663080 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1477A>G (p.Met493Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001198878]|not provided [RCV002560257] Chr11:86951279 [GRCh38]
Chr11:86662321 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1507_1508del (p.Thr503fs) microsatellite not provided [RCV001039319] Chr11:86951248..86951249 [GRCh38]
Chr11:86662290..86662291 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.511C>T (p.His171Tyr) single nucleotide variant not provided [RCV001206128] Chr11:86952245 [GRCh38]
Chr11:86663287 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 copy number gain not provided [RCV001006426] Chr11:84830143..92029933 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
NM_012193.4(FZD4):c.1108G>A (p.Ala370Thr) single nucleotide variant not provided [RCV001229755] Chr11:86951648 [GRCh38]
Chr11:86662690 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.515A>G (p.Lys172Arg) single nucleotide variant not provided [RCV001230307] Chr11:86952241 [GRCh38]
Chr11:86663283 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3953G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114666] Chr11:86947189 [GRCh38]
Chr11:86658231 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.559A>G (p.Asn187Asp) single nucleotide variant not provided [RCV001215040] Chr11:86952197 [GRCh38]
Chr11:86663239 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.338C>G (p.Pro113Arg) single nucleotide variant not provided [RCV001038546] Chr11:86952418 [GRCh38]
Chr11:86663460 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.380G>A (p.Arg127His) single nucleotide variant not provided [RCV001210801] Chr11:86952376 [GRCh38]
Chr11:86663418 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2960T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113386] Chr11:86948182 [GRCh38]
Chr11:86659224 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.1487G>A (p.Trp496Ter) single nucleotide variant not provided [RCV001038801] Chr11:86951269 [GRCh38]
Chr11:86662311 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.*5168C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001108932] Chr11:86945974 [GRCh38]
Chr11:86657016 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1322C>G (p.Ser441Ter) single nucleotide variant not provided [RCV001311265] Chr11:86951434 [GRCh38]
Chr11:86662476 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg) single nucleotide variant not provided [RCV001268102] Chr11:86951282 [GRCh38]
Chr11:86662324 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.524T>G (p.Ile175Ser) single nucleotide variant not provided [RCV001313137] Chr11:86952232 [GRCh38]
Chr11:86663274 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1443T>G (p.Ile481Met) single nucleotide variant not provided [RCV001350844] Chr11:86951313 [GRCh38]
Chr11:86662355 [GRCh37]
Chr11:11q14.2
uncertain significance
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_012193.4(FZD4):c.1133A>G (p.Tyr378Cys) single nucleotide variant not provided [RCV001320653] Chr11:86951623 [GRCh38]
Chr11:86662665 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.359T>A (p.Met120Lys) single nucleotide variant not provided [RCV001320766] Chr11:86952397 [GRCh38]
Chr11:86663439 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.355G>A (p.Gly119Ser) single nucleotide variant not provided [RCV001295523] Chr11:86952401 [GRCh38]
Chr11:86663443 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.716T>C (p.Leu239Pro) single nucleotide variant not provided [RCV001297123] Chr11:86952040 [GRCh38]
Chr11:86663082 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.638G>A (p.Arg213His) single nucleotide variant not provided [RCV001295556] Chr11:86952118 [GRCh38]
Chr11:86663160 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1561_1562del (p.Lys521fs) deletion not provided [RCV001307183] Chr11:86951194..86951195 [GRCh38]
Chr11:86662236..86662237 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.615del (p.Tyr206fs) deletion Exudative vitreoretinopathy 1 [RCV001270178] Chr11:86952141 [GRCh38]
Chr11:86663183 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.1149T>C (p.Asn383=) single nucleotide variant not provided [RCV001433975] Chr11:86951607 [GRCh38]
Chr11:86662649 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.637C>T (p.Arg213Cys) single nucleotide variant not provided [RCV001346434] Chr11:86952119 [GRCh38]
Chr11:86663161 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1594G>A (p.Gly532Ser) single nucleotide variant not provided [RCV001350919] Chr11:86951162 [GRCh38]
Chr11:86662204 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.330C>G (p.Ile110Met) single nucleotide variant Inborn genetic diseases [RCV002547835]|not provided [RCV001365108] Chr11:86952426 [GRCh38]
Chr11:86663468 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1268A>G (p.Asp423Gly) single nucleotide variant not provided [RCV001371919] Chr11:86951488 [GRCh38]
Chr11:86662530 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1523C>T (p.Ser508Phe) single nucleotide variant not provided [RCV001303955] Chr11:86951233 [GRCh38]
Chr11:86662275 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1171G>A (p.Val391Met) single nucleotide variant not provided [RCV001324417] Chr11:86951585 [GRCh38]
Chr11:86662627 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1397G>A (p.Arg466Gln) single nucleotide variant not provided [RCV001343175] Chr11:86951359 [GRCh38]
Chr11:86662401 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1483A>G (p.Ile495Val) single nucleotide variant not provided [RCV001363869] Chr11:86951273 [GRCh38]
Chr11:86662315 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.674T>C (p.Val225Ala) single nucleotide variant not provided [RCV001351758] Chr11:86952082 [GRCh38]
Chr11:86663124 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.550G>C (p.Val184Leu) single nucleotide variant not provided [RCV001315949] Chr11:86952206 [GRCh38]
Chr11:86663248 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1302G>C (p.Met434Ile) single nucleotide variant not provided [RCV001306929] Chr11:86951454 [GRCh38]
Chr11:86662496 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1078A>G (p.Ile360Val) single nucleotide variant not provided [RCV001318005] Chr11:86951678 [GRCh38]
Chr11:86662720 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.834A>G (p.Glu278=) single nucleotide variant not provided [RCV001413253] Chr11:86951922 [GRCh38]
Chr11:86662964 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1202T>C (p.Ile401Thr) single nucleotide variant not provided [RCV001360409] Chr11:86951554 [GRCh38]
Chr11:86662596 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.758G>A (p.Arg253His) single nucleotide variant not provided [RCV001366843] Chr11:86951998 [GRCh38]
Chr11:86663040 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1468A>T (p.Thr490Ser) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001269471] Chr11:86951288 [GRCh38]
Chr11:86662330 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1392T>G (p.Leu464=) single nucleotide variant not provided [RCV001395969] Chr11:86951364 [GRCh38]
Chr11:86662406 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1590A>G (p.Gly530=) single nucleotide variant not provided [RCV001402579] Chr11:86951166 [GRCh38]
Chr11:86662208 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.351C>T (p.Cys117=) single nucleotide variant not provided [RCV001455370] Chr11:86952405 [GRCh38]
Chr11:86663447 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.750C>T (p.Tyr250=) single nucleotide variant not provided [RCV001466451] Chr11:86952006 [GRCh38]
Chr11:86663048 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.999C>G (p.Leu333=) single nucleotide variant not provided [RCV001482994] Chr11:86951757 [GRCh38]
Chr11:86662799 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.715C>T (p.Leu239=) single nucleotide variant not provided [RCV001466921] Chr11:86952041 [GRCh38]
Chr11:86663083 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1158C>T (p.Ala386=) single nucleotide variant not provided [RCV001488868] Chr11:86951598 [GRCh38]
Chr11:86662640 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1314G>A (p.Gly438=) single nucleotide variant not provided [RCV001427840] Chr11:86951442 [GRCh38]
Chr11:86662484 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1347G>A (p.Thr449=) single nucleotide variant not provided [RCV001449414] Chr11:86951409 [GRCh38]
Chr11:86662451 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.312A>C (p.Pro104=) single nucleotide variant not provided [RCV001425249] Chr11:86952444 [GRCh38]
Chr11:86663486 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1510_1528del (p.Trp504fs) deletion not provided [RCV001390550] Chr11:86951228..86951246 [GRCh38]
Chr11:86662270..86662288 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1167G>C (p.Gly389=) single nucleotide variant not provided [RCV001447490] Chr11:86951589 [GRCh38]
Chr11:86662631 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1494C>T (p.Ala498=) single nucleotide variant not provided [RCV001426725] Chr11:86951262 [GRCh38]
Chr11:86662304 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1152C>T (p.Leu384=) single nucleotide variant not provided [RCV001408485] Chr11:86951604 [GRCh38]
Chr11:86662646 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.286-164C>T single nucleotide variant not provided [RCV001593468] Chr11:86952634 [GRCh38]
Chr11:86663676 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.576C>T (p.Ile192=) single nucleotide variant not provided [RCV001516946] Chr11:86952180 [GRCh38]
Chr11:86663222 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.1329G>C (p.Leu443=) single nucleotide variant not provided [RCV001480352] Chr11:86951427 [GRCh38]
Chr11:86662469 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.546C>T (p.His182=) single nucleotide variant not provided [RCV001477599] Chr11:86952210 [GRCh38]
Chr11:86663252 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1506C>T (p.His502=) single nucleotide variant not provided [RCV001436062] Chr11:86951250 [GRCh38]
Chr11:86662292 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV001471147] Chr11:86951586 [GRCh38]
Chr11:86662628 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1453T>C (p.Leu485=) single nucleotide variant not provided [RCV001429468] Chr11:86951303 [GRCh38]
Chr11:86662345 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1551A>G (p.Val517=) single nucleotide variant not provided [RCV001521871] Chr11:86951205 [GRCh38]
Chr11:86662247 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.348A>C (p.Pro116=) single nucleotide variant not provided [RCV001424083] Chr11:86952408 [GRCh38]
Chr11:86663450 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.757C>T (p.Arg253Cys) single nucleotide variant not provided [RCV001379550] Chr11:86951999 [GRCh38]
Chr11:86663041 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.1130G>A (p.Cys377Tyr) single nucleotide variant not provided [RCV001767807] Chr11:86951626 [GRCh38]
Chr11:86662668 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1092T>G (p.Ile364Met) single nucleotide variant not provided [RCV001944972] Chr11:86951664 [GRCh38]
Chr11:86662706 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1007G>A (p.Gly336Asp) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001808841] Chr11:86951749 [GRCh38]
Chr11:86662791 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.421G>C (p.Glu141Gln) single nucleotide variant Inborn genetic diseases [RCV002550355]|not provided [RCV001929901] Chr11:86952335 [GRCh38]
Chr11:86663377 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1490C>G (p.Ser497Cys) single nucleotide variant not provided [RCV002025935] Chr11:86951266 [GRCh38]
Chr11:86662308 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1375A>G (p.Ile459Val) single nucleotide variant not provided [RCV001891683] Chr11:86951381 [GRCh38]
Chr11:86662423 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.828C>T (p.Gly276=) single nucleotide variant not provided [RCV002044707] Chr11:86951928 [GRCh38]
Chr11:86662970 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1336G>C (p.Val446Leu) single nucleotide variant not provided [RCV001864017] Chr11:86951420 [GRCh38]
Chr11:86662462 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1263A>G (p.Gln421=) single nucleotide variant not provided [RCV001911909] Chr11:86951493 [GRCh38]
Chr11:86662535 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1552A>C (p.Lys518Gln) single nucleotide variant not provided [RCV001864218] Chr11:86951204 [GRCh38]
Chr11:86662246 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.863C>T (p.Ala288Val) single nucleotide variant not provided [RCV002045224] Chr11:86951893 [GRCh38]
Chr11:86662935 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1598G>A (p.Ser533Asn) single nucleotide variant not provided [RCV001896186] Chr11:86951158 [GRCh38]
Chr11:86662200 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1268A>C (p.Asp423Ala) single nucleotide variant not provided [RCV001983338] Chr11:86951488 [GRCh38]
Chr11:86662530 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.910A>G (p.Ile304Val) single nucleotide variant not provided [RCV002006741] Chr11:86951846 [GRCh38]
Chr11:86662888 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.341T>C (p.Ile114Thr) single nucleotide variant not provided [RCV002006749] Chr11:86952415 [GRCh38]
Chr11:86663457 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.286-14T>A single nucleotide variant not provided [RCV002021089] Chr11:86952484 [GRCh38]
Chr11:86663526 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.633del (p.Leu210_Tyr211insTer) deletion not provided [RCV001949394] Chr11:86952123 [GRCh38]
Chr11:86663165 [GRCh37]
Chr11:11q14.2
pathogenic
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_012193.4(FZD4):c.615C>G (p.Gly205=) single nucleotide variant not provided [RCV001965329] Chr11:86952141 [GRCh38]
Chr11:86663183 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) copy number loss not specified [RCV002052942] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21
likely pathogenic
NM_012193.4(FZD4):c.1244A>G (p.Lys415Arg) single nucleotide variant not provided [RCV002022501] Chr11:86951512 [GRCh38]
Chr11:86662554 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.845G>T (p.Cys282Phe) single nucleotide variant not provided [RCV002005234] Chr11:86951911 [GRCh38]
Chr11:86662953 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.932T>G (p.Phe311Cys) single nucleotide variant not provided [RCV001947745] Chr11:86951824 [GRCh38]
Chr11:86662866 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
NM_012193.4(FZD4):c.325A>G (p.Lys109Glu) single nucleotide variant not provided [RCV001972980] Chr11:86952431 [GRCh38]
Chr11:86663473 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.496G>A (p.Glu166Lys) single nucleotide variant not provided [RCV001955918] Chr11:86952260 [GRCh38]
Chr11:86663302 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1274C>A (p.Thr425Lys) single nucleotide variant not provided [RCV002019541] Chr11:86951482 [GRCh38]
Chr11:86662524 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1340del (p.Pro447fs) deletion not provided [RCV001963020] Chr11:86951416 [GRCh38]
Chr11:86662458 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.814A>G (p.Arg272Gly) single nucleotide variant not provided [RCV002018871] Chr11:86951942 [GRCh38]
Chr11:86662984 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1222G>A (p.Ala408Thr) single nucleotide variant not provided [RCV002035206] Chr11:86951534 [GRCh38]
Chr11:86662576 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1205del (p.Gly402fs) deletion not provided [RCV001903042] Chr11:86951551 [GRCh38]
Chr11:86662593 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV001936342] Chr11:86952409 [GRCh38]
Chr11:86663451 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1010A>G (p.His337Arg) single nucleotide variant not provided [RCV001991663] Chr11:86951746 [GRCh38]
Chr11:86662788 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1552_1555del (p.Lys518fs) deletion not provided [RCV001973523] Chr11:86951201..86951204 [GRCh38]
Chr11:86662243..86662246 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.874C>G (p.Leu292Val) single nucleotide variant not provided [RCV002046250] Chr11:86951882 [GRCh38]
Chr11:86662924 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.473G>A (p.Cys158Tyr) single nucleotide variant not provided [RCV002015347] Chr11:86952283 [GRCh38]
Chr11:86663325 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.557C>A (p.Thr186Asn) single nucleotide variant not provided [RCV002015966] Chr11:86952199 [GRCh38]
Chr11:86663241 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV002028008] Chr11:86951933 [GRCh38]
Chr11:86662975 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1346C>T (p.Thr449Met) single nucleotide variant not provided [RCV001976682] Chr11:86951410 [GRCh38]
Chr11:86662452 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1136T>C (p.Val379Ala) single nucleotide variant not provided [RCV001980636] Chr11:86951620 [GRCh38]
Chr11:86662662 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.890T>A (p.Leu297His) single nucleotide variant not provided [RCV001867452] Chr11:86951866 [GRCh38]
Chr11:86662908 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.546C>G (p.His182Gln) single nucleotide variant not provided [RCV001906462] Chr11:86952210 [GRCh38]
Chr11:86663252 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1362T>A (p.Cys454Ter) single nucleotide variant not provided [RCV001907069] Chr11:86951394 [GRCh38]
Chr11:86662436 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.680C>T (p.Ala227Val) single nucleotide variant not provided [RCV001940464] Chr11:86952076 [GRCh38]
Chr11:86663118 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.662T>C (p.Ile221Thr) single nucleotide variant not provided [RCV001918613] Chr11:86952094 [GRCh38]
Chr11:86663136 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.631T>C (p.Tyr211His) single nucleotide variant not provided [RCV001937676] Chr11:86952125 [GRCh38]
Chr11:86663167 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1079T>A (p.Ile360Asn) single nucleotide variant not provided [RCV002010041] Chr11:86951677 [GRCh38]
Chr11:86662719 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1178C>T (p.Ala393Val) single nucleotide variant not provided [RCV001916242] Chr11:86951578 [GRCh38]
Chr11:86662620 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1380dup (p.Asn461fs) duplication not provided [RCV001919038] Chr11:86951375..86951376 [GRCh38]
Chr11:86662417..86662418 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1083C>A (p.Val361=) single nucleotide variant not provided [RCV002110424] Chr11:86951673 [GRCh38]
Chr11:86662715 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.582G>A (p.Val194=) single nucleotide variant not provided [RCV002085145] Chr11:86952174 [GRCh38]
Chr11:86663216 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.447A>G (p.Pro149=) single nucleotide variant not provided [RCV002090687] Chr11:86952309 [GRCh38]
Chr11:86663351 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.291C>T (p.Phe97=) single nucleotide variant not provided [RCV002168936] Chr11:86952465 [GRCh38]
Chr11:86663507 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1404T>C (p.Ser468=) single nucleotide variant not provided [RCV002128177] Chr11:86951352 [GRCh38]
Chr11:86662394 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1221T>C (p.Ala407=) single nucleotide variant not provided [RCV002126225] Chr11:86951535 [GRCh38]
Chr11:86662577 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.870T>G (p.Pro290=) single nucleotide variant not provided [RCV002170852] Chr11:86951886 [GRCh38]
Chr11:86662928 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.903A>T (p.Gly301=) single nucleotide variant not provided [RCV002151290] Chr11:86951853 [GRCh38]
Chr11:86662895 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1395T>C (p.Phe465=) single nucleotide variant not provided [RCV002177374] Chr11:86951361 [GRCh38]
Chr11:86662403 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1509G>A (p.Thr503=) single nucleotide variant not provided [RCV002178049] Chr11:86951247 [GRCh38]
Chr11:86662289 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1413T>C (p.Asp471=) single nucleotide variant not provided [RCV002177577] Chr11:86951343 [GRCh38]
Chr11:86662385 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.939A>G (p.Gly313=) single nucleotide variant not provided [RCV002103615] Chr11:86951817 [GRCh38]
Chr11:86662859 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.990A>G (p.Ala330=) single nucleotide variant not provided [RCV002121067] Chr11:86951766 [GRCh38]
Chr11:86662808 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.597C>T (p.Asn199=) single nucleotide variant not provided [RCV002155845] Chr11:86952159 [GRCh38]
Chr11:86663201 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1029C>T (p.His343=) single nucleotide variant not provided [RCV003118133] Chr11:86951727 [GRCh38]
Chr11:86662769 [GRCh37]
Chr11:11q14.2
likely benign
NC_000011.9:g.(?_85339652)_(86666127_?)del deletion not provided [RCV003122860] Chr11:85339652..86666127 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_012193.4(FZD4):c.1216A>G (p.Ile406Val) single nucleotide variant not provided [RCV002296977] Chr11:86951540 [GRCh38]
Chr11:86662582 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1273del (p.Thr425fs) deletion Exudative vitreoretinopathy 1 [RCV002285090] Chr11:86951483 [GRCh38]
Chr11:86662525 [GRCh37]
Chr11:11q14.2
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1 copy number loss not provided [RCV002474501] Chr11:80562738..88663067 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
NM_012193.4(FZD4):c.874C>A (p.Leu292Ile) single nucleotide variant not provided [RCV002304283] Chr11:86951882 [GRCh38]
Chr11:86662924 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1535T>C (p.Val512Ala) single nucleotide variant not provided [RCV002305221] Chr11:86951221 [GRCh38]
Chr11:86662263 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.508C>T (p.Pro170Ser) single nucleotide variant not provided [RCV002296324] Chr11:86952248 [GRCh38]
Chr11:86663290 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1166G>T (p.Gly389Val) single nucleotide variant not provided [RCV002295876] Chr11:86951590 [GRCh38]
Chr11:86662632 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.656C>G (p.Thr219Ser) single nucleotide variant not provided [RCV002299513] Chr11:86952100 [GRCh38]
Chr11:86663142 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV002302147] Chr11:86952338 [GRCh38]
Chr11:86663380 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1073A>G (p.Lys358Arg) single nucleotide variant not provided [RCV002303193] Chr11:86951683 [GRCh38]
Chr11:86662725 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1315del (p.Val439fs) deletion not provided [RCV002511714] Chr11:86951441 [GRCh38]
Chr11:86662483 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.729C>G (p.Ile243Met) single nucleotide variant Inborn genetic diseases [RCV002859510] Chr11:86952027 [GRCh38]
Chr11:86663069 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.947G>C (p.Ser316Thr) single nucleotide variant not provided [RCV003014923] Chr11:86951809 [GRCh38]
Chr11:86662851 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.696C>T (p.Ile232=) single nucleotide variant not provided [RCV002775276] Chr11:86952060 [GRCh38]
Chr11:86663102 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.306T>C (p.Tyr102=) single nucleotide variant not provided [RCV003011898] Chr11:86952450 [GRCh38]
Chr11:86663492 [GRCh37]
Chr11:11q14.2
likely benign
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_012193.4(FZD4):c.699C>G (p.Ser233=) single nucleotide variant not provided [RCV003017180] Chr11:86952057 [GRCh38]
Chr11:86663099 [GRCh37]
Chr11:11q14.2
likely benign
NM_007173.6(PRSS23):c.52G>A (p.Val18Ile) single nucleotide variant Inborn genetic diseases [RCV002859912] Chr11:86807695 [GRCh38]
Chr11:86518737 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.969G>C (p.Arg323Ser) single nucleotide variant Inborn genetic diseases [RCV002753207] Chr11:86808612 [GRCh38]
Chr11:86519654 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.128A>C (p.Gln43Pro) single nucleotide variant Inborn genetic diseases [RCV002731674] Chr11:86807771 [GRCh38]
Chr11:86518813 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1420A>G (p.Met474Val) single nucleotide variant Inborn genetic diseases [RCV002818470] Chr11:86951336 [GRCh38]
Chr11:86662378 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.827del (p.Gly276fs) deletion not provided [RCV002839440] Chr11:86951929 [GRCh38]
Chr11:86662971 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.530C>G (p.Pro177Arg) single nucleotide variant not provided [RCV002842758] Chr11:86952226 [GRCh38]
Chr11:86663268 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1173G>A (p.Val391=) single nucleotide variant not provided [RCV002857980] Chr11:86951583 [GRCh38]
Chr11:86662625 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.836G>A (p.Arg279Lys) single nucleotide variant not provided [RCV003055734] Chr11:86951920 [GRCh38]
Chr11:86662962 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.278A>G (p.Asn93Ser) single nucleotide variant Inborn genetic diseases [RCV002981131] Chr11:86807921 [GRCh38]
Chr11:86518963 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.607A>T (p.Lys203Ter) single nucleotide variant not provided [RCV002821059] Chr11:86952149 [GRCh38]
Chr11:86663191 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.835A>G (p.Arg279Gly) single nucleotide variant not provided [RCV002658849] Chr11:86951921 [GRCh38]
Chr11:86662963 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.852dup (p.Glu285Ter) duplication not provided [RCV002824028] Chr11:86951903..86951904 [GRCh38]
Chr11:86662945..86662946 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1455G>T (p.Leu485Phe) single nucleotide variant not provided [RCV002760273] Chr11:86951301 [GRCh38]
Chr11:86662343 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.106C>T (p.Arg36Cys) single nucleotide variant Inborn genetic diseases [RCV002659911] Chr11:86807749 [GRCh38]
Chr11:86518791 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1188_1192del (p.Phe396fs) deletion not provided [RCV003100644] Chr11:86951564..86951568 [GRCh38]
Chr11:86662606..86662610 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.865G>C (p.Glu289Gln) single nucleotide variant not provided [RCV003038022] Chr11:86951891 [GRCh38]
Chr11:86662933 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1502_1503del (p.Leu501fs) deletion not provided [RCV002870947] Chr11:86951253..86951254 [GRCh38]
Chr11:86662295..86662296 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.599G>A (p.Cys200Tyr) single nucleotide variant not provided [RCV003036888] Chr11:86952157 [GRCh38]
Chr11:86663199 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.374G>A (p.Arg125Gln) single nucleotide variant Inborn genetic diseases [RCV002868204] Chr11:86808017 [GRCh38]
Chr11:86519059 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1077C>A (p.Thr359=) single nucleotide variant not provided [RCV003038453] Chr11:86951679 [GRCh38]
Chr11:86662721 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.847G>A (p.Asp283Asn) single nucleotide variant not provided [RCV003007759] Chr11:86951909 [GRCh38]
Chr11:86662951 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.473C>T (p.Thr158Met) single nucleotide variant Inborn genetic diseases [RCV002830626] Chr11:86808116 [GRCh38]
Chr11:86519158 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.362_366del (p.Cys121fs) deletion not provided [RCV002871786] Chr11:86952390..86952394 [GRCh38]
Chr11:86663432..86663436 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1236C>G (p.Ala412=) single nucleotide variant not provided [RCV002801592] Chr11:86951520 [GRCh38]
Chr11:86662562 [GRCh37]
Chr11:11q14.2
likely benign
NM_007173.6(PRSS23):c.23T>G (p.Leu8Arg) single nucleotide variant Inborn genetic diseases [RCV002699830] Chr11:86807666 [GRCh38]
Chr11:86518708 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.385C>A (p.Gln129Lys) single nucleotide variant Inborn genetic diseases [RCV002744214] Chr11:86808028 [GRCh38]
Chr11:86519070 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.898G>A (p.Glu300Lys) single nucleotide variant Inborn genetic diseases [RCV002954840] Chr11:86808541 [GRCh38]
Chr11:86519583 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1390C>T (p.Leu464Phe) single nucleotide variant not provided [RCV002958807] Chr11:86951366 [GRCh38]
Chr11:86662408 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.43C>T (p.Leu15Phe) single nucleotide variant Inborn genetic diseases [RCV002853541] Chr11:86807686 [GRCh38]
Chr11:86518728 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.340A>G (p.Ile114Val) single nucleotide variant not provided [RCV002851805] Chr11:86952416 [GRCh38]
Chr11:86663458 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.316C>T (p.Leu106Phe) single nucleotide variant Inborn genetic diseases [RCV002984956] Chr11:86807959 [GRCh38]
Chr11:86519001 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.830G>A (p.Arg277Gln) single nucleotide variant not provided [RCV002958033] Chr11:86951926 [GRCh38]
Chr11:86662968 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.382T>C (p.Cys128Arg) single nucleotide variant not provided [RCV003084890] Chr11:86952374 [GRCh38]
Chr11:86663416 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.638G>T (p.Arg213Leu) single nucleotide variant not provided [RCV002631691] Chr11:86952118 [GRCh38]
Chr11:86663160 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1113T>C (p.Asp371=) single nucleotide variant not provided [RCV003048188] Chr11:86951643 [GRCh38]
Chr11:86662685 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1505A>C (p.His502Pro) single nucleotide variant not provided [RCV002716403] Chr11:86951251 [GRCh38]
Chr11:86662293 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.68C>T (p.Pro23Leu) single nucleotide variant Inborn genetic diseases [RCV002769922] Chr11:86807711 [GRCh38]
Chr11:86518753 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.550G>A (p.Val184Met) single nucleotide variant Inborn genetic diseases [RCV002963671] Chr11:86808193 [GRCh38]
Chr11:86519235 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.469A>T (p.Met157Leu) single nucleotide variant not provided [RCV003028305] Chr11:86952287 [GRCh38]
Chr11:86663329 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1074A>C (p.Lys358Asn) single nucleotide variant not provided [RCV003045852] Chr11:86951682 [GRCh38]
Chr11:86662724 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.904T>A (p.Cys302Ser) single nucleotide variant not provided [RCV002856398] Chr11:86951852 [GRCh38]
Chr11:86662894 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.957del (p.Trp319fs) deletion not provided [RCV003062437] Chr11:86951799 [GRCh38]
Chr11:86662841 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.456C>G (p.Asn152Lys) single nucleotide variant not provided [RCV003062438] Chr11:86952300 [GRCh38]
Chr11:86663342 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV002649672] Chr11:86951592 [GRCh38]
Chr11:86662634 [GRCh37]
Chr11:11q14.2
likely benign
NM_007173.6(PRSS23):c.129G>T (p.Gln43His) single nucleotide variant Inborn genetic diseases [RCV002920848] Chr11:86807772 [GRCh38]
Chr11:86518814 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.1066A>G (p.Asn356Asp) single nucleotide variant Inborn genetic diseases [RCV002725201] Chr11:86808709 [GRCh38]
Chr11:86519751 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1485T>C (p.Ile495=) single nucleotide variant not provided [RCV003049633] Chr11:86951271 [GRCh38]
Chr11:86662313 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.685C>T (p.Leu229=) single nucleotide variant not provided [RCV002652978] Chr11:86952071 [GRCh38]
Chr11:86663113 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1249C>T (p.Arg417Trp) single nucleotide variant not provided [RCV002725933] Chr11:86951507 [GRCh38]
Chr11:86662549 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1302G>A (p.Met434Ile) single nucleotide variant not provided [RCV002635131] Chr11:86951454 [GRCh38]
Chr11:86662496 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1539T>C (p.Asn513=) single nucleotide variant not provided [RCV002653059] Chr11:86951217 [GRCh38]
Chr11:86662259 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.521C>T (p.Pro174Leu) single nucleotide variant not provided [RCV002653642] Chr11:86952235 [GRCh38]
Chr11:86663277 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.456C>T (p.Asn152=) single nucleotide variant not provided [RCV002654515] Chr11:86952300 [GRCh38]
Chr11:86663342 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1579G>T (p.Val527Leu) single nucleotide variant not provided [RCV002588293] Chr11:86951177 [GRCh38]
Chr11:86662219 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1065C>T (p.Pro355=) single nucleotide variant not provided [RCV002609007] Chr11:86951691 [GRCh38]
Chr11:86662733 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1030A>G (p.Ser344Gly) single nucleotide variant not provided [RCV002725898] Chr11:86951726 [GRCh38]
Chr11:86662768 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.571T>C (p.Tyr191His) single nucleotide variant not provided [RCV003154401] Chr11:86952185 [GRCh38]
Chr11:86663227 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.352T>C (p.Ser118Pro) single nucleotide variant Inborn genetic diseases [RCV003189667] Chr11:86807995 [GRCh38]
Chr11:86519037 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.809T>G (p.Ile270Ser) single nucleotide variant Inborn genetic diseases [RCV003218468] Chr11:86951947 [GRCh38]
Chr11:86662989 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.820A>C (p.Thr274Pro) single nucleotide variant Inborn genetic diseases [RCV003209265] Chr11:86951936 [GRCh38]
Chr11:86662978 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1475G>A (p.Gly492Asp) single nucleotide variant Exudative vitreoretinopathy 1 [RCV003143434] Chr11:86951281 [GRCh38]
Chr11:86662323 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.178G>C (p.Glu60Gln) single nucleotide variant Inborn genetic diseases [RCV003220241] Chr11:86807821 [GRCh38]
Chr11:86518863 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1499C>G (p.Thr500Ser) single nucleotide variant not provided [RCV003569797] Chr11:86951257 [GRCh38]
Chr11:86662299 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.360del (p.Met120fs) deletion not provided [RCV003570106] Chr11:86952396 [GRCh38]
Chr11:86663438 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.475A>C (p.Met159Leu) single nucleotide variant not provided [RCV003875434] Chr11:86952281 [GRCh38]
Chr11:86663323 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1505A>G (p.His502Arg) single nucleotide variant not provided [RCV003395989] Chr11:86951251 [GRCh38]
Chr11:86662293 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_007173.6(PRSS23):c.166G>A (p.Glu56Lys) single nucleotide variant not provided [RCV003395988] Chr11:86807809 [GRCh38]
Chr11:86518851 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.341T>A (p.Ile114Asn) single nucleotide variant not provided [RCV003456786] Chr11:86952415 [GRCh38]
Chr11:86663457 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_007173.6(PRSS23):c.18G>A (p.Gly6=) single nucleotide variant not provided [RCV003390115] Chr11:86807661 [GRCh38]
Chr11:86518703 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1489T>C (p.Ser497Pro) single nucleotide variant not provided [RCV003574465] Chr11:86951267 [GRCh38]
Chr11:86662309 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.473G>T (p.Cys158Phe) single nucleotide variant not provided [RCV003687826] Chr11:86952283 [GRCh38]
Chr11:86663325 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.941T>C (p.Met314Thr) single nucleotide variant not provided [RCV003574082] Chr11:86951815 [GRCh38]
Chr11:86662857 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.683G>T (p.Ser228Ile) single nucleotide variant not provided [RCV003688621] Chr11:86952073 [GRCh38]
Chr11:86663115 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.683G>C (p.Ser228Thr) single nucleotide variant not provided [RCV003662246] Chr11:86952073 [GRCh38]
Chr11:86663115 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1497_1498del (p.Lys499fs) deletion not provided [RCV003572255] Chr11:86951258..86951259 [GRCh38]
Chr11:86662300..86662301 [GRCh37]
Chr11:11q14.2
pathogenic
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:3087
Count of miRNA genes:1082
Interacting mature miRNAs:1367
Transcripts:ENST00000280258, ENST00000441050, ENST00000527521, ENST00000528769, ENST00000531475, ENST00000531521, ENST00000532234, ENST00000532572, ENST00000533880, ENST00000533902
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
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
SHGC-34130  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,522,128 - 86,522,254UniSTSGRCh37
Build 361186,199,776 - 86,199,902RGDNCBI36
Celera1183,833,522 - 83,833,648RGD
Cytogenetic Map11q14.1UniSTS
HuRef1182,811,349 - 82,811,475UniSTS
Stanford-G3 RH Map113827.0UniSTS
GeneMap99-GB4 RH Map11301.36UniSTS
Whitehead-RH Map11398.5UniSTS
NCBI RH Map11717.4UniSTS
GeneMap99-G3 RH Map113827.0UniSTS
PRSS23_9218  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,519,511 - 86,520,421UniSTSGRCh37
Build 361186,197,159 - 86,198,069RGDNCBI36
Celera1183,830,905 - 83,831,815RGD
HuRef1182,808,738 - 82,809,644UniSTS


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 pharyngeal arch
High
Medium 2324 1715 1190 230 333 83 3118 1130 988 334 1370 1492 159 1194 2026 1
Low 112 1079 528 389 832 377 1236 1055 2710 85 89 108 16 1 10 762 5 2
Below cutoff 3 197 8 5 415 5 2 12 32 1 12

Sequence

Nucleotide Sequences
RefSeq Transcripts NM_001293179 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001293180 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_007173 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120591 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120592 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NR_120593 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AF015287 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF193611 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075362 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK304301 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK315562 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK316508 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL136914 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL832007 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP000654 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001528 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AU279649 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY359033 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC001278 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC063022 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG286404 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BP206707 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BU634437 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB113923 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CR456824 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CX871294 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA396057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA600625 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA895063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DA910788 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DN917578 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  OA985982 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

RefSeq Acc Id: ENST00000280258   ⟹   ENSP00000280258
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,800,542 - 86,811,233 (+)Ensembl
RefSeq Acc Id: ENST00000527521   ⟹   ENSP00000435951
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,791,059 - 86,808,106 (+)Ensembl
RefSeq Acc Id: ENST00000528769
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,940,786 - 86,951,407 (+)Ensembl
RefSeq Acc Id: ENST00000531475
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,800,544 - 86,932,893 (+)Ensembl
RefSeq Acc Id: ENST00000531521
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,940,786 - 86,951,736 (+)Ensembl
RefSeq Acc Id: ENST00000532234   ⟹   ENSP00000436676
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,800,521 - 86,952,788 (+)Ensembl
RefSeq Acc Id: ENST00000532572
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,823,396 - 86,937,819 (+)Ensembl
RefSeq Acc Id: ENST00000533880
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,800,544 - 86,932,934 (+)Ensembl
RefSeq Acc Id: ENST00000533902   ⟹   ENSP00000437268
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,800,521 - 86,952,910 (+)Ensembl
RefSeq Acc Id: NM_001293179   ⟹   NP_001280108
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,800,542 - 86,811,233 (+)NCBI
CHM1_11186,397,000 - 86,407,989 (+)NCBI
T2T-CHM13v2.01186,741,290 - 86,751,981 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001293180   ⟹   NP_001280109
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,791,071 - 86,811,233 (+)NCBI
CHM1_11186,387,855 - 86,407,989 (+)NCBI
T2T-CHM13v2.01186,731,821 - 86,751,981 (+)NCBI
Sequence:
RefSeq Acc Id: NM_007173   ⟹   NP_009104
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,800,542 - 86,811,233 (+)NCBI
GRCh371186,511,288 - 86,522,275 (+)NCBI
Build 361186,189,139 - 86,199,923 (+)NCBI Archive
Celera1183,822,885 - 83,833,669 (+)RGD
HuRef1182,800,718 - 82,811,496 (+)ENTREZGENE
CHM1_11186,397,000 - 86,407,989 (+)NCBI
T2T-CHM13v2.01186,741,290 - 86,751,981 (+)NCBI
Sequence:
RefSeq Acc Id: NR_120591
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,800,542 - 86,952,910 (+)NCBI
CHM1_11186,397,000 - 86,550,040 (+)NCBI
T2T-CHM13v2.01186,741,290 - 86,893,752 (+)NCBI
Sequence:
RefSeq Acc Id: NR_120592
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,800,542 - 86,952,910 (+)NCBI
CHM1_11186,397,000 - 86,550,040 (+)NCBI
T2T-CHM13v2.01186,741,290 - 86,893,752 (+)NCBI
Sequence:
RefSeq Acc Id: NR_120593
RefSeq Status: REVIEWED
Type: NON-CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,800,542 - 86,937,819 (+)NCBI
CHM1_11186,397,000 - 86,534,949 (+)NCBI
T2T-CHM13v2.01186,741,290 - 86,878,617 (+)NCBI
Sequence:
RefSeq Acc Id: NP_009104   ⟸   NM_007173
- Peptide Label: precursor
- UniProtKB: O95084 (UniProtKB/Swiss-Prot),   B4E2J3 (UniProtKB/Swiss-Prot),   B2RDJ1 (UniProtKB/Swiss-Prot),   Q6IBI0 (UniProtKB/Swiss-Prot),   B3KQQ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280109   ⟸   NM_001293180
- Peptide Label: precursor
- UniProtKB: B4E2J3 (UniProtKB/Swiss-Prot),   B2RDJ1 (UniProtKB/Swiss-Prot),   Q6IBI0 (UniProtKB/Swiss-Prot),   O95084 (UniProtKB/Swiss-Prot),   B3KQQ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001280108   ⟸   NM_001293179
- Peptide Label: precursor
- UniProtKB: B4E2J3 (UniProtKB/Swiss-Prot),   B2RDJ1 (UniProtKB/Swiss-Prot),   Q6IBI0 (UniProtKB/Swiss-Prot),   O95084 (UniProtKB/Swiss-Prot),   B3KQQ9 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000280258   ⟸   ENST00000280258
RefSeq Acc Id: ENSP00000436676   ⟸   ENST00000532234
RefSeq Acc Id: ENSP00000437268   ⟸   ENST00000533902
RefSeq Acc Id: ENSP00000435951   ⟸   ENST00000527521
Protein Domains
Peptidase S1

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95084-F1-model_v2 AlphaFold O95084 1-383 view protein structure

Promoters
RGD ID:6789278
Promoter ID:HG_KWN:13885
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3
Transcripts:ENST00000280258,   UC001PCC.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361186,188,976 - 86,189,476 (+)MPROMDB
RGD ID:6850764
Promoter ID:EP73176
Type:initiation region
Name:HS_SPUVE
Description:Protease, serine, 23.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361186,189,232 - 86,189,292EPD
RGD ID:7221759
Promoter ID:EPDNEW_H16624
Type:initiation region
Name:PRSS23_3
Description:protease, serine 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16621  EPDNEW_H16625  EPDNEW_H16626  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,791,071 - 86,791,131EPDNEW
RGD ID:7221757
Promoter ID:EPDNEW_H16625
Type:initiation region
Name:PRSS23_1
Description:protease, serine 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16621  EPDNEW_H16624  EPDNEW_H16626  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,800,544 - 86,800,604EPDNEW
RGD ID:7221761
Promoter ID:EPDNEW_H16626
Type:initiation region
Name:PRSS23_2
Description:protease, serine 23
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16621  EPDNEW_H16625  EPDNEW_H16624  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,809,060 - 86,809,120EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:14370 AgrOrtholog
COSMIC PRSS23 COSMIC
Ensembl Genes ENSG00000150687 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000280258 ENTREZGENE
  ENST00000280258.6 UniProtKB/Swiss-Prot
  ENST00000527521.1 UniProtKB/TrEMBL
  ENST00000532234 ENTREZGENE
  ENST00000532234.5 UniProtKB/TrEMBL
  ENST00000533902 ENTREZGENE
  ENST00000533902.2 UniProtKB/TrEMBL
Gene3D-CATH 2.40.10.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000150687 GTEx
HGNC ID HGNC:14370 ENTREZGENE
Human Proteome Map PRSS23 Human Proteome Map
InterPro Peptidase_S1_PA UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Peptidase_S1_PA_chymotrypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Trypsin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:11098 UniProtKB/Swiss-Prot
NCBI Gene 11098 ENTREZGENE
OMIM 618376 OMIM
PANTHER SERINE PROTEASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SERINE PROTEASE 23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Trypsin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA134952846 PharmGKB
PROSITE TRYPSIN_HIS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF50494 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt B2RDJ1 ENTREZGENE
  B3KQQ9 ENTREZGENE, UniProtKB/TrEMBL
  B4E2J3 ENTREZGENE
  E9PIB7_HUMAN UniProtKB/TrEMBL
  E9PMX2_HUMAN UniProtKB/TrEMBL
  E9PRR2_HUMAN UniProtKB/TrEMBL
  O95084 ENTREZGENE, UniProtKB/Swiss-Prot
  Q6IBI0 ENTREZGENE
UniProt Secondary B2RDJ1 UniProtKB/Swiss-Prot
  B4E2J3 UniProtKB/Swiss-Prot
  Q6IBI0 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2018-01-23 PRSS23  serine protease 23  PRSS23  protease, serine 23  Symbol and/or name change 5135510 APPROVED
2015-11-24 PRSS23  protease, serine 23  PRSS23  protease, serine, 23  Symbol and/or name change 5135510 APPROVED