LRAT (lecithin retinol acyltransferase) - Rat Genome Database

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Gene: LRAT (lecithin retinol acyltransferase) Homo sapiens
Analyze
Symbol: LRAT
Name: lecithin retinol acyltransferase
RGD ID: 68515
HGNC Page HGNC:6685
Description: Enables phosphatidylcholine-retinol O-acyltransferase activity. Involved in retinol metabolic process. Predicted to be located in endoplasmic reticulum; multivesicular body; and perinuclear region of cytoplasm. Predicted to be active in rough endoplasmic reticulum. Implicated in Leber congenital amaurosis 14 and retinitis pigmentosa.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: LCA14; lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase); MGC33103
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,740,838 - 154,753,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4154,626,945 - 154,753,120 (+)EnsemblGRCh38hg38GRCh38
GRCh374155,661,990 - 155,674,272 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,884,613 - 155,893,720 (+)NCBINCBI36Build 36hg18NCBI36
Build 344156,022,767 - 156,031,875NCBI
Celera4152,996,143 - 153,005,248 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4151,405,746 - 151,414,958 (+)NCBIHuRef
CHM1_14155,643,059 - 155,652,147 (+)NCBICHM1_1
T2T-CHM13v2.04158,072,645 - 158,084,927 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,1-dichloroethene  (ISO)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2-bromohexadecanoic acid  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
aflatoxin B1  (EXP)
all-trans-retinoic acid  (EXP,ISO)
all-trans-retinol  (EXP,ISO)
ammonium chloride  (ISO)
arachidonic acid  (ISO)
aristolochic acid A  (EXP)
arotinoid acid  (ISO)
benzo[a]pyrene  (EXP,ISO)
beta-naphthoflavone  (ISO)
bisphenol A  (ISO)
bisphenol F  (ISO)
buspirone  (ISO)
cadmium dichloride  (EXP)
captan  (ISO)
carbon nanotube  (ISO)
CGP 52608  (EXP)
chloroprene  (ISO)
chlorpyrifos  (ISO)
clorgyline  (EXP)
cyproconazole  (ISO)
dibenz[a,h]anthracene  (ISO)
diethylstilbestrol  (ISO)
dimethylarsinic acid  (ISO)
dioxygen  (ISO)
dopamine  (ISO)
dorsomorphin  (EXP)
entinostat  (EXP)
epoxiconazole  (ISO)
ethanol  (EXP)
fenoldopam  (ISO)
fenthion  (ISO)
folic acid  (EXP)
folpet  (ISO)
furan  (ISO)
glafenine  (ISO)
glyphosate  (ISO)
iron dichloride  (EXP)
isoprenaline  (ISO)
isotretinoin  (EXP)
linoleic acid  (ISO)
manganese atom  (ISO)
manganese(0)  (ISO)
manganese(II) chloride  (ISO)
methidathion  (ISO)
mono(2-ethylhexyl) phthalate  (ISO)
Muraglitazar  (ISO)
N-nitrosodiethylamine  (ISO)
N-nitrosodimethylamine  (ISO)
nefazodone  (ISO)
nickel sulfate  (ISO)
nimesulide  (ISO)
nitrofen  (ISO)
ozone  (ISO)
paracetamol  (ISO)
perfluorooctane-1-sulfonic acid  (EXP)
phenobarbital  (ISO)
phenylmercury acetate  (EXP)
pirinixic acid  (ISO)
potassium dichromate  (ISO)
propiconazole  (ISO)
resveratrol  (EXP)
retinyl acetate  (ISO)
rotenone  (ISO)
SB 431542  (EXP)
silicon dioxide  (EXP,ISO)
sodium arsenite  (ISO)
sodium dichromate  (ISO)
sunitinib  (EXP)
testosterone  (ISO)
tetrachloroethene  (ISO)
tetrachloromethane  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
triclosan  (EXP)
triphenyl phosphate  (ISO)
troglitazone  (ISO)
valdecoxib  (ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
zaragozic acid A  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal corneal endothelium morphology  (IAGP)
Abnormal electroretinogram  (IAGP)
Abnormal macular morphology  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal pupillary light reflex  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Abnormal testis morphology  (IAGP)
Abnormality of fundus pigmentation  (IAGP)
Abnormality of neuronal migration  (IAGP)
Abnormality of retinal pigmentation  (IAGP)
Abnormality of the eye  (IAGP)
Aplasia/Hypoplasia of the cerebellar vermis  (IAGP)
Attenuation of retinal blood vessels  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Blindness  (IAGP)
Blurred vision  (IAGP)
Bone spicule pigmentation of the retina  (IAGP)
Cataract  (IAGP)
Chorioretinal atrophy  (IAGP)
Color vision defect  (IAGP)
Conductive hearing impairment  (IAGP)
Cone/cone-rod dystrophy  (IAGP)
Congenital blindness  (IAGP)
Constriction of peripheral visual field  (IAGP)
Decreased light- and dark-adapted electroretinogram amplitude  (IAGP)
Delayed early-childhood social milestone development  (IAGP)
Encephalocele  (IAGP)
Exotropia  (IAGP)
Falls  (IAGP)
Glaucoma  (IAGP)
Global developmental delay  (IAGP)
Granular macular appearance  (IAGP)
Hearing impairment  (IAGP)
Hemiplegia/hemiparesis  (IAGP)
Hyperinsulinemia  (IAGP)
Hyperreflexia  (IAGP)
Hypogonadism  (IAGP)
Hypotonia  (IAGP)
Intellectual disability  (IAGP)
Keratoconus  (IAGP)
Macular coloboma  (IAGP)
Maturity-onset diabetes of the young  (IAGP)
Mild global developmental delay  (IAGP)
Myopia  (IAGP)
Nyctalopia  (IAGP)
Nystagmus  (IAGP)
Obesity  (IAGP)
Ophthalmoplegia  (IAGP)
Optic atrophy  (IAGP)
Optic disc drusen  (IAGP)
Optic disc pallor  (IAGP)
Pallor  (IAGP)
Peripheral visual field loss  (IAGP)
Photophobia  (IAGP)
Photopsia  (IAGP)
Posterior subcapsular cataract  (IAGP)
Posterior synechiae of the anterior chamber  (IAGP)
Postural instability  (IAGP)
Progressive night blindness  (IAGP)
Reduced visual acuity  (IAGP)
Retinal degeneration  (IAGP)
Retinal detachment  (IAGP)
Retinal dystrophy  (IAGP)
Retinal pigment epithelial atrophy  (IAGP)
Retinal pigment epithelial mottling  (IAGP)
Rhegmatogenous retinal detachment  (IAGP)
Rod-cone dystrophy  (IAGP)
Seizure  (IAGP)
Sensorineural hearing impairment  (IAGP)
Severely reduced visual acuity  (IAGP)
Undetectable electroretinogram  (IAGP)
Unsteady gait  (IAGP)
Visual impairment  (IAGP)
X-linked recessive inheritance  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Genes and mutations causing retinitis pigmentosa. Daiger SP, etal., Clin Genet. 2013 Aug;84(2):132-41. doi: 10.1111/cge.12203. Epub 2013 Jun 19.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Mechanisms involved in the intestinal absorption of dietary vitamin A and provitamin A carotenoids. Harrison EH Biochim Biophys Acta. 2012 Jan;1821(1):70-7. Epub 2011 Jun 12.
4. Key enzymes of the retinoid (visual) cycle in vertebrate retina. Kiser PD, etal., Biochim Biophys Acta. 2012 Jan;1821(1):137-51. Epub 2011 Apr 5.
5. Physiological insights into all-trans-retinoic acid biosynthesis. Napoli JL Biochim Biophys Acta. 2012 Jan;1821(1):152-67. Epub 2011 May 19.
6. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
7. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
8. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
9. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
10. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
11. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
12. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. Thompson DA, etal., Nat Genet. 2001 Jun;28(2):123-4.
13. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Wright AF, etal., Nat Rev Genet. 2010 Apr;11(4):273-84. doi: 10.1038/nrg2717.
14. Acidic retinoids synergize with vitamin A to enhance retinol uptake and STRA6, LRAT, and CYP26B1 expression in neonatal lung. Wu L and Ross AC, J Lipid Res. 2010 Feb;51(2):378-87. Epub 2009 Aug 20.
Additional References at PubMed
PMID:1322170   PMID:9767084   PMID:9920938   PMID:10819989   PMID:11133845   PMID:11162450   PMID:12009892   PMID:12477932   PMID:14581364   PMID:14596594   PMID:14702039   PMID:14704332  
PMID:15161698   PMID:15186777   PMID:15474300   PMID:15489334   PMID:15583024   PMID:16115871   PMID:16344560   PMID:16939223   PMID:17011878   PMID:17438524   PMID:18055821   PMID:18544127  
PMID:18652909   PMID:18823527   PMID:19471114   PMID:19665987   PMID:20301475   PMID:20301590   PMID:20356843   PMID:20574532   PMID:20591486   PMID:20801516   PMID:21465477   PMID:21873635  
PMID:22559933   PMID:22570351   PMID:22605381   PMID:23890161   PMID:24036882   PMID:24433184   PMID:24613493   PMID:25236354   PMID:25260806   PMID:25383759   PMID:26186194   PMID:28514442  
PMID:28758396   PMID:28942093   PMID:29973277   PMID:30285347   PMID:32296183   PMID:33961781  


Genomics

Comparative Map Data
LRAT
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh384154,740,838 - 154,753,120 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl4154,626,945 - 154,753,120 (+)EnsemblGRCh38hg38GRCh38
GRCh374155,661,990 - 155,674,272 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 364155,884,613 - 155,893,720 (+)NCBINCBI36Build 36hg18NCBI36
Build 344156,022,767 - 156,031,875NCBI
Celera4152,996,143 - 153,005,248 (+)NCBICelera
Cytogenetic Map4q32.1NCBI
HuRef4151,405,746 - 151,414,958 (+)NCBIHuRef
CHM1_14155,643,059 - 155,652,147 (+)NCBICHM1_1
T2T-CHM13v2.04158,072,645 - 158,084,927 (+)NCBIT2T-CHM13v2.0
Lrat
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39382,799,889 - 82,811,281 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl382,799,886 - 82,811,280 (-)EnsemblGRCm39 Ensembl
GRCm38382,892,582 - 82,903,974 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl382,892,579 - 82,903,973 (-)EnsemblGRCm38mm10GRCm38
MGSCv37382,696,504 - 82,707,896 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36382,978,509 - 82,989,901 (-)NCBIMGSCv36mm8
Celera382,903,193 - 82,914,568 (-)NCBICelera
Cytogenetic Map3E3NCBI
cM Map336.81NCBI
Lrat
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr82170,562,148 - 170,571,212 (-)NCBIGRCr8
mRatBN7.22168,264,093 - 168,273,155 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl2168,266,877 - 168,273,619 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx2175,454,144 - 175,463,229 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.02173,475,076 - 173,484,161 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.02168,076,492 - 168,085,579 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.02181,896,304 - 181,905,366 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl2181,896,305 - 181,905,300 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.02201,310,924 - 201,319,986 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.42174,636,382 - 174,645,444 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.12174,586,488 - 174,595,550 (-)NCBI
Celera2162,290,825 - 162,299,887 (-)NCBICelera
Cytogenetic Map2q34NCBI
Lrat
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554712,603,678 - 2,609,079 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554712,603,395 - 2,610,988 (+)NCBIChiLan1.0ChiLan1.0
LRAT
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v23152,653,378 - 152,665,654 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan14153,008,750 - 153,021,026 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v04147,110,568 - 147,119,706 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.14158,928,607 - 158,937,747 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl4158,928,607 - 158,937,747 (+)Ensemblpanpan1.1panPan2
LRAT
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.11552,399,773 - 52,409,590 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl1552,399,544 - 52,406,176 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha1552,744,532 - 52,752,466 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.01553,086,516 - 53,094,290 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl1553,087,735 - 53,096,027 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.11552,341,249 - 52,349,017 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.01552,447,030 - 52,454,972 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.01552,762,096 - 52,769,963 (+)NCBIUU_Cfam_GSD_1.0
Lrat
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440530138,044,997 - 38,054,957 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365761,492,297 - 1,501,917 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365761,491,480 - 1,498,568 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
LRAT
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl874,409,461 - 74,419,681 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1874,412,226 - 74,428,713 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2878,710,192 - 78,726,673 (-)NCBISscrofa10.2Sscrofa10.2susScr3
LRAT
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.17101,297,114 - 101,304,675 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl7101,297,691 - 101,302,520 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366603780,952,291 - 80,959,916 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Lrat
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248532,936,109 - 2,945,101 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248532,936,426 - 2,941,993 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in LRAT
231 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_004744.5(LRAT):c.400_401del (p.Lys134fs) deletion RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED [RCV000005662]|not provided [RCV003555926] Chr4:154744723..154744724 [GRCh38]
Chr4:155665875..155665876 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.217_218del (p.Met73fs) deletion LRAT-related disorder [RCV003390644]|Leber congenital amaurosis 14 [RCV000005663]|RETINITIS PIGMENTOSA, JUVENILE, LRAT-RELATED [RCV000005664]|not provided [RCV001380248] Chr4:154744543..154744544 [GRCh38]
Chr4:155665695..155665696 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004744.5(LRAT):c.504C>A (p.Cys168Ter) single nucleotide variant Leber congenital amaurosis 14 [RCV001526725]|not provided [RCV002568132] Chr4:154744830 [GRCh38]
Chr4:155665982 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.163C>T (p.Arg55Trp) single nucleotide variant Retinitis pigmentosa [RCV000132653]|not provided [RCV003556177] Chr4:154744489 [GRCh38]
Chr4:155665641 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
NM_004744.5(LRAT):c.525T>A (p.Ser175Arg) single nucleotide variant RETINAL DYSTROPHY, EARLY-ONSET SEVERE, LRAT-RELATED [RCV000005661]|not provided [RCV000086208] Chr4:154744851 [GRCh38]
Chr4:155666003 [GRCh37]
Chr4:4q32.1		 pathogenic|not provided
GRCh38/hg38 4q26-35.2(chr4:118065569-190042639)x3 copy number gain See cases [RCV000051785] Chr4:118065569..190042639 [GRCh38]
Chr4:118986724..190828225 [GRCh37]
Chr4:119206172..191200788 [NCBI36]
Chr4:4q26-35.2		 pathogenic
GRCh38/hg38 4q27-35.2(chr4:121518223-190062270)x3 copy number gain See cases [RCV000051786] Chr4:121518223..190062270 [GRCh38]
Chr4:122439378..190828225 [GRCh37]
Chr4:122658828..191220419 [NCBI36]
Chr4:4q27-35.2		 pathogenic
GRCh38/hg38 4q31.22-34.1(chr4:147317283-173675559)x3 copy number gain See cases [RCV000051788] Chr4:147317283..173675559 [GRCh38]
Chr4:148238435..174596710 [GRCh37]
Chr4:148457885..174833285 [NCBI36]
Chr4:4q31.22-34.1		 pathogenic
GRCh38/hg38 4q31.23-35.2(chr4:148356485-189548183)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051789]|See cases [RCV000051789] Chr4:148356485..189548183 [GRCh38]
Chr4:149277637..190469337 [GRCh37]
Chr4:149497087..190706331 [NCBI36]
Chr4:4q31.23-35.2		 pathogenic
GRCh38/hg38 4q22.2-32.3(chr4:92913386-165299707)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000051775]|See cases [RCV000051775] Chr4:92913386..165299707 [GRCh38]
Chr4:93834537..166220859 [GRCh37]
Chr4:94053560..166440309 [NCBI36]
Chr4:4q22.2-32.3		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:153656785-154928773)x1 copy number loss See cases [RCV000053324] Chr4:153656785..154928773 [GRCh38]
Chr4:154577937..155849925 [GRCh37]
Chr4:154797387..156069375 [NCBI36]
Chr4:4q31.3-32.1		 pathogenic
NM_004744.5(LRAT):c.588dup (p.Ala197fs) duplication not provided [RCV000081184] Chr4:154749029..154749030 [GRCh38]
Chr4:155670181..155670182 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.342G>A (p.Glu114=) single nucleotide variant Leber congenital amaurosis 14 [RCV000391650]|Leber congenital amaurosis [RCV000305110]|Retinal dystrophy [RCV003888495]|Retinitis pigmentosa [RCV000344978]|not provided [RCV000086207] Chr4:154744668 [GRCh38]
Chr4:155665820 [GRCh37]
Chr4:4q32.1		 benign|likely benign|not provided
NM_004744.5(LRAT):c.74T>A (p.Phe25Tyr) single nucleotide variant Leber congenital amaurosis 14 [RCV001144270]|Retinitis pigmentosa [RCV001144271]|not provided [RCV000086956]|not specified [RCV001804840] Chr4:154744400 [GRCh38]
Chr4:155665552 [GRCh37]
Chr4:4q32.1		 benign|likely benign|not provided
NM_004744.5(LRAT):c.233_242del (p.Leu78fs) deletion Autosomal recessive retinitis pigmentosa [RCV001257788]|not provided [RCV000171516] Chr4:154744559..154744568 [GRCh38]
Chr4:155665711..155665720 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh38/hg38 4q31.21-35.2(chr4:145042668-189975519)x3 copy number gain See cases [RCV000135845] Chr4:145042668..189975519 [GRCh38]
Chr4:145963820..190828225 [GRCh37]
Chr4:146183270..191133668 [NCBI36]
Chr4:4q31.21-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:151299810-160314050)x1 copy number loss See cases [RCV000135696] Chr4:151299810..160314050 [GRCh38]
Chr4:152220962..161235202 [GRCh37]
Chr4:152440412..161454652 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3 copy number gain See cases [RCV000136810] Chr4:138510532..189963195 [GRCh38]
Chr4:139431686..190828225 [GRCh37]
Chr4:139651136..191121344 [NCBI36]
Chr4:4q31.1-35.2		 pathogenic
GRCh38/hg38 4q28.3-35.2(chr4:131985253-190095391)x3 copy number gain See cases [RCV000137721] Chr4:131985253..190095391 [GRCh38]
Chr4:132906408..190828225 [GRCh37]
Chr4:133125858..191250527 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic|likely benign
GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3 copy number gain See cases [RCV000138578] Chr4:125432943..185761887 [GRCh38]
Chr4:126354098..186683041 [GRCh37]
Chr4:126573548..186920035 [NCBI36]
Chr4:4q28.1-35.1		 pathogenic|likely benign
GRCh38/hg38 4q28.3-35.2(chr4:134935616-190036318)x3 copy number gain See cases [RCV000143559] Chr4:134935616..190036318 [GRCh38]
Chr4:135856771..190957473 [GRCh37]
Chr4:136076221..191194467 [NCBI36]
Chr4:4q28.3-35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:152500649-155788803)x3 copy number gain See cases [RCV000143617] Chr4:152500649..155788803 [GRCh38]
Chr4:153421801..156709955 [GRCh37]
Chr4:153641251..156929405 [NCBI36]
Chr4:4q31.3-32.1		 likely pathogenic
NM_004744.5(LRAT):c.*3T>G single nucleotide variant Leber congenital amaurosis 14 [RCV000357330]|Leber congenital amaurosis [RCV000298961]|Retinitis pigmentosa [RCV000262458]|not provided [RCV000153453] Chr4:154749139 [GRCh38]
Chr4:155670291 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.398A>C (p.Lys133Thr) single nucleotide variant not provided [RCV000175790] Chr4:154744724 [GRCh38]
Chr4:155665876 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q28.3-35.1(chr4:136912336-184253252)x3 copy number gain See cases [RCV000240245] Chr4:136912336..184253252 [GRCh37]
Chr4:4q28.3-35.1		 pathogenic
NM_004744.5(LRAT):c.*3654T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000361977]|Retinal dystrophy [RCV000264860]|Retinitis pigmentosa [RCV000304933] Chr4:154752790 [GRCh38]
Chr4:155673942 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3980T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000262085]|Retinal dystrophy [RCV000356955]|Retinitis pigmentosa [RCV000331303] Chr4:154753116 [GRCh38]
Chr4:155674268 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3712G>C single nucleotide variant Leber congenital amaurosis 14 [RCV000356166]|Leber congenital amaurosis [RCV000263747]|Retinitis pigmentosa [RCV000322290] Chr4:154752848 [GRCh38]
Chr4:155674000 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.205C>T (p.Arg69Cys) single nucleotide variant Leber congenital amaurosis 14 [RCV000373271]|Leber congenital amaurosis [RCV000318562]|Retinitis pigmentosa [RCV000259610]|not provided [RCV001337653] Chr4:154744531 [GRCh38]
Chr4:155665683 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.78T>A (p.Ser26Arg) single nucleotide variant Breast ductal adenocarcinoma [RCV000207169] Chr4:154744404 [GRCh38]
Chr4:155665556 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.473G>A (p.Trp158Ter) single nucleotide variant Retinal dystrophy [RCV000225673]|not provided [RCV000760505] Chr4:154744799 [GRCh38]
Chr4:155665951 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q26-35.2(chr4:119437495-190904301)x3 copy number gain See cases [RCV000240392] Chr4:119437495..190904301 [GRCh37]
Chr4:4q26-35.2		 pathogenic
NM_004744.5(LRAT):c.*826C>T single nucleotide variant Leber congenital amaurosis 14 [RCV000392152]|Retinal dystrophy [RCV000278503]|Retinitis pigmentosa [RCV000335877] Chr4:154749962 [GRCh38]
Chr4:155671114 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*817A>G single nucleotide variant Leber congenital amaurosis 14 [RCV000283280]|Retinal dystrophy [RCV000374361]|Retinitis pigmentosa [RCV000319645]|not provided [RCV004710981] Chr4:154749953 [GRCh38]
Chr4:155671105 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004744.5(LRAT):c.*3264G>A single nucleotide variant Leber congenital amaurosis 14 [RCV000280544]|Leber congenital amaurosis [RCV000372379]|Retinitis pigmentosa [RCV000319241] Chr4:154752400 [GRCh38]
Chr4:155673552 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*106T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000273931]|Retinal dystrophy [RCV000329034]|Retinitis pigmentosa [RCV000387556] Chr4:154749242 [GRCh38]
Chr4:155670394 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2670G>T single nucleotide variant Leber congenital amaurosis 14 [RCV000365961]|Leber congenital amaurosis [RCV000308980]|Retinitis pigmentosa [RCV000274777]|not provided [RCV004710984] Chr4:154751806 [GRCh38]
Chr4:155672958 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004744.5(LRAT):c.*640T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000326359]|Leber congenital amaurosis [RCV000271399]|Retinitis pigmentosa [RCV000362463] Chr4:154749776 [GRCh38]
Chr4:155670928 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2463T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000271194]|Leber congenital amaurosis [RCV000328759]|Retinitis pigmentosa [RCV000386645] Chr4:154751599 [GRCh38]
Chr4:155672751 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.487C>G (p.His163Asp) single nucleotide variant Leber congenital amaurosis 14 [RCV003155209]|Retinitis pigmentosa [RCV001199703]|not provided [RCV000487578] Chr4:154744813 [GRCh38]
Chr4:155665965 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic|uncertain significance
NM_004744.5(LRAT):c.*1338T>G single nucleotide variant Leber congenital amaurosis 14 [RCV000359826]|Leber congenital amaurosis [RCV000267706]|Retinitis pigmentosa [RCV000307679]|not provided [RCV004710982] Chr4:154750474 [GRCh38]
Chr4:155671626 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004744.5(LRAT):c.*98C>T single nucleotide variant Leber congenital amaurosis 14 [RCV000277933]|Leber congenital amaurosis [RCV000354005]|Retinitis pigmentosa [RCV000333107]|Rod-cone dystrophy [RCV001090045] Chr4:154749234 [GRCh38]
Chr4:155670386 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004744.5(LRAT):c.*2396C>G single nucleotide variant Leber congenital amaurosis 14 [RCV000405410]|Retinal dystrophy [RCV000339910]|Retinitis pigmentosa [RCV000300147] Chr4:154751532 [GRCh38]
Chr4:155672684 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2625A>G single nucleotide variant Leber congenital amaurosis 14 [RCV000390667]|Leber congenital amaurosis [RCV000314893]|Retinitis pigmentosa [RCV000367124]|not provided [RCV004695781] Chr4:154751761 [GRCh38]
Chr4:155672913 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.403G>T (p.Ala135Ser) single nucleotide variant Leber congenital amaurosis 14 [RCV000341318]|Leber congenital amaurosis [RCV000405767]|Retinitis pigmentosa [RCV000302543]|not provided [RCV000732304] Chr4:154744729 [GRCh38]
Chr4:155665881 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3819T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000347237]|Leber congenital amaurosis [RCV000288916]|Retinitis pigmentosa [RCV000392699] Chr4:154752955 [GRCh38]
Chr4:155674107 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.258G>A (p.Gly86=) single nucleotide variant Leber congenital amaurosis 14 [RCV000290030]|Leber congenital amaurosis [RCV000348458]|Retinitis pigmentosa [RCV000384403] Chr4:154744584 [GRCh38]
Chr4:155665736 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT insertion Leber congenital amaurosis [RCV000347036]|Retinal dystrophy [RCV000384722]|Retinitis Pigmentosa, Recessive [RCV000288526] Chr4:154751392..154751393 [GRCh38]
Chr4:155672544..155672545 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.*2310A>T single nucleotide variant Leber congenital amaurosis 14 [RCV000306037]|Retinal dystrophy [RCV000392775]|Retinitis pigmentosa [RCV000345804] Chr4:154751446 [GRCh38]
Chr4:155672598 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3459dup duplication Leber congenital amaurosis [RCV000293170]|Retinal dystrophy [RCV000408137]|Retinitis Pigmentosa, Recessive [RCV000350483] Chr4:154752585..154752586 [GRCh38]
Chr4:155673737..155673738 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.244A>G (p.Thr82Ala) single nucleotide variant Inborn genetic diseases [RCV004639225]|Leber congenital amaurosis 14 [RCV000293647]|Retinal dystrophy [RCV000387959]|Retinitis pigmentosa [RCV000333433]|not provided [RCV002523466] Chr4:154744570 [GRCh38]
Chr4:155665722 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1281C>A single nucleotide variant Leber congenital amaurosis 14 [RCV000365734]|Retinal dystrophy [RCV000308745]|Retinitis pigmentosa [RCV000406435] Chr4:154750417 [GRCh38]
Chr4:155671569 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1867C>T single nucleotide variant Leber congenital amaurosis 14 [RCV000316614]|Retinal dystrophy [RCV000295462]|Retinitis pigmentosa [RCV000373449]|not provided [RCV004710983] Chr4:154751003 [GRCh38]
Chr4:155672155 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004744.5(LRAT):c.*3618G>A single nucleotide variant Leber congenital amaurosis [RCV000310317]|Retinal dystrophy [RCV000363231]|Retinitis pigmentosa [RCV000402661] Chr4:154752754 [GRCh38]
Chr4:155673906 [GRCh37]
Chr4:4q32.1		 benign|likely benign
NM_004744.5(LRAT):c.*1155T>A single nucleotide variant Leber congenital amaurosis 14 [RCV000406170]|Retinal dystrophy [RCV000348534]|Retinitis pigmentosa [RCV000296050] Chr4:154750291 [GRCh38]
Chr4:155671443 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2529C>T single nucleotide variant Leber congenital amaurosis [RCV000297399]|Retinal dystrophy [RCV000407189]|Retinitis pigmentosa [RCV000335951] Chr4:154751665 [GRCh38]
Chr4:155672817 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004744.5(LRAT):c.*329T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000406747]|Retinal dystrophy [RCV000335676]|Retinitis pigmentosa [RCV000280529] Chr4:154749465 [GRCh38]
Chr4:155670617 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2418G>A single nucleotide variant Leber congenital amaurosis 14 [RCV000298246]|Leber congenital amaurosis [RCV000356561]|Retinitis pigmentosa [RCV000259391] Chr4:154751554 [GRCh38]
Chr4:155672706 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2477_*2479del deletion Leber congenital amaurosis [RCV000340580]|Retinal dystrophy [RCV000379995]|Retinitis Pigmentosa, Recessive [RCV000283200] Chr4:154751611..154751613 [GRCh38]
Chr4:155672763..155672765 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.-2+7A>C single nucleotide variant Leber congenital amaurosis 14 [RCV000304425]|Leber congenital amaurosis [RCV000358145]|Retinitis pigmentosa [RCV000263378] Chr4:154744229 [GRCh38]
Chr4:155665381 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1585T>G single nucleotide variant Leber congenital amaurosis 14 [RCV000263696]|Leber congenital amaurosis [RCV000320456]|Retinitis pigmentosa [RCV000358852] Chr4:154750721 [GRCh38]
Chr4:155671873 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2453C>A single nucleotide variant Leber congenital amaurosis 14 [RCV000369378]|Leber congenital amaurosis [RCV000277145]|Retinitis pigmentosa [RCV000329848] Chr4:154751589 [GRCh38]
Chr4:155672741 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2968C>G single nucleotide variant Leber congenital amaurosis 14 [RCV000267481]|Retinal dystrophy [RCV000320496]|Retinitis pigmentosa [RCV000377439] Chr4:154752104 [GRCh38]
Chr4:155673256 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.-84C>T single nucleotide variant Leber congenital amaurosis 14 [RCV000268041]|Retinal dystrophy [RCV000362672]|Retinitis pigmentosa [RCV000307915] Chr4:154744140 [GRCh38]
Chr4:155665292 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*671A>G single nucleotide variant Leber congenital amaurosis 14 [RCV000322998]|Retinal dystrophy [RCV000377758]|Retinitis pigmentosa [RCV000267963] Chr4:154749807 [GRCh38]
Chr4:155670959 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2741_*2743dup duplication Leber congenital amaurosis [RCV000268807]|Retinal dystrophy [RCV000326252]|Retinitis Pigmentosa, Recessive [RCV000378596] Chr4:154751876..154751877 [GRCh38]
Chr4:155673028..155673029 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3435A>C single nucleotide variant Leber congenital amaurosis [RCV000351548]|Retinal dystrophy [RCV000280117]|Retinitis Pigmentosa, Recessive [RCV000408165] Chr4:154752571 [GRCh38]
Chr4:155673723 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.300C>T (p.Gly100=) single nucleotide variant not provided [RCV000595141] Chr4:154744626 [GRCh38]
Chr4:155665778 [GRCh37]
Chr4:4q32.1		 conflicting interpretations of pathogenicity|uncertain significance
NM_004744.5(LRAT):c.*549T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000401913]|Leber congenital amaurosis [RCV000369131]|Retinitis pigmentosa [RCV000314421] Chr4:154749685 [GRCh38]
Chr4:155670837 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2190C>T single nucleotide variant Leber congenital amaurosis 14 [RCV000294403]|Retinal dystrophy [RCV000386319]|Retinitis pigmentosa [RCV000334218] Chr4:154751326 [GRCh38]
Chr4:155672478 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3729del deletion Leber congenital amaurosis [RCV000387817]|Retinal dystrophy [RCV000316952]|Retinitis Pigmentosa, Recessive [RCV000295697] Chr4:154752858 [GRCh38]
Chr4:155674010 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*313del deletion Leber congenital amaurosis [RCV000380435]|Retinal dystrophy [RCV000340983]|Retinitis Pigmentosa, Recessive [RCV000285976]|not provided [RCV004695780] Chr4:154749441 [GRCh38]
Chr4:155670593 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3978C>T single nucleotide variant Leber congenital amaurosis 14 [RCV000359103]|Retinal dystrophy [RCV000404355]|Retinitis pigmentosa [RCV000297472] Chr4:154753114 [GRCh38]
Chr4:155674266 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2467C>G single nucleotide variant Leber congenital amaurosis 14 [RCV000341643]|Leber congenital amaurosis [RCV000289014]|Retinitis pigmentosa [RCV000381100] Chr4:154751603 [GRCh38]
Chr4:155672755 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.-115C>G single nucleotide variant Leber congenital amaurosis 14 [RCV000405924]|Leber congenital amaurosis [RCV000311278]|Retinitis pigmentosa [RCV000347396] Chr4:154744109 [GRCh38]
Chr4:155665261 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*632T>C single nucleotide variant Leber congenital amaurosis 14 [RCV000404944]|Retinal dystrophy [RCV000311070]|Retinitis pigmentosa [RCV000366021] Chr4:154749768 [GRCh38]
Chr4:155670920 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*298_*301del deletion Leber congenital amaurosis [RCV000344570]|Retinal dystrophy [RCV000289645]|Retinitis Pigmentosa, Recessive [RCV000383654] Chr4:154749431..154749434 [GRCh38]
Chr4:155670583..155670586 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3770A>G single nucleotide variant Leber congenital amaurosis 14 [RCV000329614]|Retinal dystrophy [RCV000386711]|Retinitis pigmentosa [RCV000290046] Chr4:154752906 [GRCh38]
Chr4:155674058 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3958G>A single nucleotide variant Leber congenital amaurosis 14 [RCV000341553]|Retinal dystrophy [RCV000301953]|Retinitis pigmentosa [RCV000392712] Chr4:154753094 [GRCh38]
Chr4:155674246 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.459dup (p.Tyr154fs) duplication not provided [RCV000598854] Chr4:154744780..154744781 [GRCh38]
Chr4:155665932..155665933 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:12440-190904441)x3 copy number gain See cases [RCV000446653] Chr4:12440..190904441 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473) copy number gain See cases [RCV000510453] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:153890440-190957473)x3 copy number gain See cases [RCV000510713] Chr4:153890440..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
GRCh37/hg19 4q31.3-32.2(chr4:153203431-162912359)x1 copy number loss See cases [RCV000511404] Chr4:153203431..162912359 [GRCh37]
Chr4:4q31.3-32.2		 pathogenic
GRCh37/hg19 4q25-35.2(chr4:109199664-189752726)x3 copy number gain See cases [RCV000511945] Chr4:109199664..189752726 [GRCh37]
Chr4:4q25-35.2		 pathogenic
GRCh37/hg19 4q22.1-35.2(chr4:93071152-190957473)x3 copy number gain See cases [RCV000510970] Chr4:93071152..190957473 [GRCh37]
Chr4:4q22.1-35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:68346-190957473)x3 copy number gain See cases [RCV000512241] Chr4:68346..190957473 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154763131-158404825)x1 copy number loss not provided [RCV000682474] Chr4:154763131..158404825 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190915650)x3 copy number gain not provided [RCV000743155] Chr4:49450..190915650 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4q32.1(chr4:155627814-155678345)x1 copy number loss not provided [RCV000744065] Chr4:155627814..155678345 [GRCh37]
Chr4:4q32.1		 benign
GRCh37/hg19 4p16.3-q35.2(chr4:49450-190963766)x3 copy number gain not provided [RCV000743156] Chr4:49450..190963766 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
GRCh37/hg19 4p16.3-q35.2(chr4:11525-191028879)x3 copy number gain not provided [RCV000743147] Chr4:11525..191028879 [GRCh37]
Chr4:4p16.3-q35.2		 pathogenic
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu) single nucleotide variant Leber congenital amaurosis 1 [RCV000987484]|Leber congenital amaurosis 14 [RCV002250709]|not provided [RCV001858669] Chr4:154744672 [GRCh38]
Chr4:155665824 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004744.5(LRAT):c.*2854A>G single nucleotide variant Leber congenital amaurosis 14 [RCV001149310]|Retinitis pigmentosa [RCV001149311] Chr4:154751990 [GRCh38]
Chr4:155673142 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.8A>G (p.Asn3Ser) single nucleotide variant not provided [RCV000981663] Chr4:154744334 [GRCh38]
Chr4:155665486 [GRCh37]
Chr4:4q32.1		 benign
NM_004744.5(LRAT):c.264_265dup (p.Gln89fs) duplication Retinitis pigmentosa [RCV000787848] Chr4:154744588..154744589 [GRCh38]
Chr4:155665740..155665741 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004744.5(LRAT):c.611C>T (p.Ala204Val) single nucleotide variant Leber congenital amaurosis 14 [RCV003132118]|not provided [RCV000877819] Chr4:154749054 [GRCh38]
Chr4:155670206 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004744.5(LRAT):c.40G>T (p.Glu14Ter) single nucleotide variant Leber congenital amaurosis [RCV000826116] Chr4:154744366 [GRCh38]
Chr4:155665518 [GRCh37]
Chr4:4q32.1		 likely pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:154907679-159012980)x1 copy number loss not provided [RCV000848578] Chr4:154907679..159012980 [GRCh37]
Chr4:4q31.3-32.1		 uncertain significance
NM_004744.5(LRAT):c.*81T>C single nucleotide variant Leber congenital amaurosis 14 [RCV001148968]|Retinitis pigmentosa [RCV001150476] Chr4:154749217 [GRCh38]
Chr4:155670369 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2417G>A single nucleotide variant Leber congenital amaurosis 14 [RCV001150706]|Retinitis pigmentosa [RCV001150707] Chr4:154751553 [GRCh38]
Chr4:155672705 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.364A>G (p.Ile122Val) single nucleotide variant Leber congenital amaurosis 14 [RCV001146156]|Retinitis pigmentosa [RCV001146157]|not provided [RCV001858960] Chr4:154744690 [GRCh38]
Chr4:155665842 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*517G>A single nucleotide variant Leber congenital amaurosis 14 [RCV001144390]|Retinitis pigmentosa [RCV001146283] Chr4:154749653 [GRCh38]
Chr4:155670805 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1936G>C single nucleotide variant Leber congenital amaurosis 14 [RCV001146421]|Retinitis pigmentosa [RCV001146420] Chr4:154751072 [GRCh38]
Chr4:155672224 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2629G>A single nucleotide variant Leber congenital amaurosis 14 [RCV001146546]|Retinitis pigmentosa [RCV001146545] Chr4:154751765 [GRCh38]
Chr4:155672917 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2222G>C single nucleotide variant Leber congenital amaurosis 14 [RCV001149198]|Retinitis pigmentosa [RCV001149199] Chr4:154751358 [GRCh38]
Chr4:155672510 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*624T>C single nucleotide variant Leber congenital amaurosis 14 [RCV001146286]|Retinitis pigmentosa [RCV001146287] Chr4:154749760 [GRCh38]
Chr4:155670912 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3263C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001150808]|Retinitis pigmentosa [RCV001150807] Chr4:154752399 [GRCh38]
Chr4:155673551 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3714T>C single nucleotide variant Leber congenital amaurosis 14 [RCV001146663]|Retinitis pigmentosa [RCV001146662] Chr4:154752850 [GRCh38]
Chr4:155674002 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly) single nucleotide variant Leber congenital amaurosis 1 [RCV000987482]|not provided [RCV001858668] Chr4:154744489 [GRCh38]
Chr4:155665641 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q31.3-35.2(chr4:151174061-190957473)x3 copy number gain not provided [RCV000849098] Chr4:151174061..190957473 [GRCh37]
Chr4:4q31.3-35.2		 pathogenic
NM_004744.5(LRAT):c.139C>T (p.Arg47Ter) single nucleotide variant not provided [RCV001008711] Chr4:154744465 [GRCh38]
Chr4:155665617 [GRCh37]
Chr4:4q32.1		 pathogenic|likely pathogenic
GRCh37/hg19 4q28.1-35.1(chr4:124873497-185278662)x3 copy number gain not provided [RCV000849686] Chr4:124873497..185278662 [GRCh37]
Chr4:4q28.1-35.1		 pathogenic
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser) single nucleotide variant Leber congenital amaurosis 1 [RCV000987483]|not provided [RCV002549681] Chr4:154744624 [GRCh38]
Chr4:155665776 [GRCh37]
Chr4:4q32.1		 pathogenic|uncertain significance
NM_004744.5(LRAT):c.*3072G>T single nucleotide variant Leber congenital amaurosis 14 [RCV001149314]|Retinitis pigmentosa [RCV001149315] Chr4:154752208 [GRCh38]
Chr4:155673360 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*98C>A single nucleotide variant Leber congenital amaurosis 14 [RCV001150477]|Retinitis pigmentosa [RCV001150478] Chr4:154749234 [GRCh38]
Chr4:155670386 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3081A>C single nucleotide variant Leber congenital amaurosis 14 [RCV001150801]|Retinitis pigmentosa [RCV001150802] Chr4:154752217 [GRCh38]
Chr4:155673369 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3213C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001150806]|Retinitis pigmentosa [RCV001150805] Chr4:154752349 [GRCh38]
Chr4:155673501 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.80C>G (p.Ser27Trp) single nucleotide variant Inborn genetic diseases [RCV002557079]|Leber congenital amaurosis 14 [RCV001144272]|Retinitis pigmentosa [RCV001144273]|not provided [RCV001307491] Chr4:154744406 [GRCh38]
Chr4:155665558 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3509C>A single nucleotide variant Leber congenital amaurosis 14 [RCV001144698]|Retinitis pigmentosa [RCV001144699] Chr4:154752645 [GRCh38]
Chr4:155673797 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.476A>G (p.Asn159Ser) single nucleotide variant Leber congenital amaurosis 14 [RCV001148964]|Retinitis pigmentosa [RCV001148965]|not provided [RCV001858977] Chr4:154744802 [GRCh38]
Chr4:155665954 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.627G>A (p.Thr209=) single nucleotide variant not provided [RCV000951670] Chr4:154749070 [GRCh38]
Chr4:155670222 [GRCh37]
Chr4:4q32.1		 benign
NM_004744.5(LRAT):c.*2458C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001144610]|Retinitis pigmentosa [RCV001144611] Chr4:154751594 [GRCh38]
Chr4:155672746 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3382G>A single nucleotide variant Leber congenital amaurosis 14 [RCV001144696]|Retinitis pigmentosa [RCV001144697] Chr4:154752518 [GRCh38]
Chr4:155673670 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.*2322C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001149201]|Retinitis pigmentosa [RCV001149200] Chr4:154751458 [GRCh38]
Chr4:155672610 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2347C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001149202]|Retinitis pigmentosa [RCV001150705] Chr4:154751483 [GRCh38]
Chr4:155672635 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.26T>C (p.Val9Ala) single nucleotide variant not provided [RCV001228014] Chr4:154744352 [GRCh38]
Chr4:155665504 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:153061243-157994448)x1 copy number loss not provided [RCV001005606] Chr4:153061243..157994448 [GRCh37]
Chr4:4q31.3-32.1		 likely pathogenic
NM_004744.5(LRAT):c.*138C>A single nucleotide variant Leber congenital amaurosis 14 [RCV001150479]|Retinitis pigmentosa [RCV001144385] Chr4:154749274 [GRCh38]
Chr4:155670426 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*495C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001144389]|Retinitis pigmentosa [RCV001144388] Chr4:154749631 [GRCh38]
Chr4:155670783 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1418C>G single nucleotide variant Leber congenital amaurosis 14 [RCV001144499]|Retinitis pigmentosa [RCV001144500] Chr4:154750554 [GRCh38]
Chr4:155671706 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3163C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001150803]|Retinitis pigmentosa [RCV001150804] Chr4:154752299 [GRCh38]
Chr4:155673451 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.519G>T (p.Pro173=) single nucleotide variant LRAT-related disorder [RCV003938513]|Leber congenital amaurosis 14 [RCV001148966]|Retinitis pigmentosa [RCV001148967]|not provided [RCV002070807] Chr4:154744845 [GRCh38]
Chr4:155665997 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NM_004744.5(LRAT):c.428G>T (p.Arg143Leu) single nucleotide variant not provided [RCV001233313] Chr4:154744754 [GRCh38]
Chr4:155665906 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.517C>T (p.Pro173Ser) single nucleotide variant not provided [RCV001041608] Chr4:154744843 [GRCh38]
Chr4:155665995 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.-1-12T>C single nucleotide variant Retinitis pigmentosa [RCV001150362] Chr4:154744314 [GRCh38]
Chr4:155665466 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.-15C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001150360]|Retinitis pigmentosa [RCV001150361] Chr4:154744209 [GRCh38]
Chr4:155665361 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*828G>C single nucleotide variant Leber congenital amaurosis 14 [RCV001150589]|Retinitis pigmentosa [RCV001150590] Chr4:154749964 [GRCh38]
Chr4:155671116 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.197G>A (p.Gly66Glu) single nucleotide variant not provided [RCV001042750] Chr4:154744523 [GRCh38]
Chr4:155665675 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.299G>A (p.Gly100Asp) single nucleotide variant Leber congenital amaurosis 14 [RCV001257115]|not provided [RCV001044592] Chr4:154744625 [GRCh38]
Chr4:155665777 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004744.5(LRAT):c.99C>A (p.Asp33Glu) single nucleotide variant not provided [RCV001234679] Chr4:154744425 [GRCh38]
Chr4:155665577 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.190T>C (p.Tyr64His) single nucleotide variant not provided [RCV001230586] Chr4:154744516 [GRCh38]
Chr4:155665668 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.628G>C (p.Gly210Arg) single nucleotide variant Inborn genetic diseases [RCV002561672]|not provided [RCV001208190] Chr4:154749071 [GRCh38]
Chr4:155670223 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*336C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001144387]|Retinitis pigmentosa [RCV001144386] Chr4:154749472 [GRCh38]
Chr4:155670624 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1390G>A single nucleotide variant Leber congenital amaurosis 14 [RCV001144497]|Retinitis pigmentosa [RCV001144498] Chr4:154750526 [GRCh38]
Chr4:155671678 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*561A>G single nucleotide variant Leber congenital amaurosis 14 [RCV001146284]|Retinitis pigmentosa [RCV001146285] Chr4:154749697 [GRCh38]
Chr4:155670849 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2064T>G single nucleotide variant Leber congenital amaurosis 14 [RCV001146422]|Retinitis pigmentosa [RCV001146423] Chr4:154751200 [GRCh38]
Chr4:155672352 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*1120C>T single nucleotide variant Leber congenital amaurosis 14 [RCV001150592]|Retinitis pigmentosa [RCV001150591] Chr4:154750256 [GRCh38]
Chr4:155671408 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*3917A>G single nucleotide variant Leber congenital amaurosis 14 [RCV001147569]|Retinitis pigmentosa [RCV001147570] Chr4:154753053 [GRCh38]
Chr4:155674205 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.*2855A>G single nucleotide variant Leber congenital amaurosis 14 [RCV001149312]|Retinitis pigmentosa [RCV001149313] Chr4:154751991 [GRCh38]
Chr4:155673143 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.319A>G (p.Ser107Gly) single nucleotide variant not provided [RCV001231896] Chr4:154744645 [GRCh38]
Chr4:155665797 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.111C>G (p.Asn37Lys) single nucleotide variant Inborn genetic diseases [RCV002561877]|Retinal dystrophy [RCV003887914]|not provided [RCV001215926] Chr4:154744437 [GRCh38]
Chr4:155665589 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.-199G>T single nucleotide variant Retinitis pigmentosa [RCV001148829] Chr4:154744025 [GRCh38]
Chr4:155665177 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.139C>A (p.Arg47=) single nucleotide variant not provided [RCV001246051] Chr4:154744465 [GRCh38]
Chr4:155665617 [GRCh37]
Chr4:4q32.1		 likely benign|uncertain significance
NC_000004.12:g.(?_154740841)_(154749136_?)del deletion Leber congenital amaurosis 14 [RCV001257114] Chr4:154740841..154749136 [GRCh38]
Chr4:4q32.1		 pathogenic
GRCh37/hg19 4q31.3-32.1(chr4:155528674-156370083)x3 copy number gain not provided [RCV001259878] Chr4:155528674..156370083 [GRCh37]
Chr4:4q31.3-32.1		 likely benign
NM_004744.5(LRAT):c.626C>T (p.Thr209Met) single nucleotide variant not provided [RCV001348300] Chr4:154749069 [GRCh38]
Chr4:155670221 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.487C>T (p.His163Tyr) single nucleotide variant Leber congenital amaurosis 14 [RCV001257117]|not specified [RCV001732094] Chr4:154744813 [GRCh38]
Chr4:155665965 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004744.5(LRAT):c.149T>G (p.Val50Gly) single nucleotide variant Leber congenital amaurosis 14 [RCV001257119] Chr4:154744475 [GRCh38]
Chr4:155665627 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004744.5(LRAT):c.241_242del (p.Leu81fs) deletion Autosomal recessive retinitis pigmentosa [RCV001257787]|Leber congenital amaurosis 14 [RCV004762029] Chr4:154744567..154744568 [GRCh38]
Chr4:155665719..155665720 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.481T>C (p.Cys161Arg) single nucleotide variant Leber congenital amaurosis 14 [RCV001257116] Chr4:154744807 [GRCh38]
Chr4:155665959 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004744.5(LRAT):c.554_555del (p.Val185fs) microsatellite Leber congenital amaurosis 14 [RCV001257118]|not provided [RCV003770339] Chr4:154748995..154748996 [GRCh38]
Chr4:155670147..155670148 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.239C>T (p.Ala80Val) single nucleotide variant not provided [RCV001315762] Chr4:154744565 [GRCh38]
Chr4:155665717 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.382G>C (p.Asp128His) single nucleotide variant Leber congenital amaurosis 14 [RCV002486147]|not provided [RCV001298772] Chr4:154744708 [GRCh38]
Chr4:155665860 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.632T>G (p.Leu211Trp) single nucleotide variant not provided [RCV001337519] Chr4:154749075 [GRCh38]
Chr4:155670227 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.316G>A (p.Ala106Thr) single nucleotide variant Leber congenital amaurosis 14 [RCV001376402] Chr4:154744642 [GRCh38]
Chr4:155665794 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.231C>G (p.Ile77Met) single nucleotide variant not provided [RCV001359603] Chr4:154744557 [GRCh38]
Chr4:155665709 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.583G>A (p.Val195Ile) single nucleotide variant not provided [RCV001360558] Chr4:154749026 [GRCh38]
Chr4:155670178 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q28.3-32.3(chr4:131303317-168722402)x3 copy number gain not provided [RCV001537926] Chr4:131303317..168722402 [GRCh37]
Chr4:4q28.3-32.3		 pathogenic
NM_004744.5(LRAT):c.569G>A (p.Arg190His) single nucleotide variant not provided [RCV001299092]|not specified [RCV004526834] Chr4:154749012 [GRCh38]
Chr4:155670164 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.564T>C (p.Ile188=) single nucleotide variant not provided [RCV001395552] Chr4:154749007 [GRCh38]
Chr4:155670159 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.89C>T (p.Ala30Val) single nucleotide variant not provided [RCV001361086] Chr4:154744415 [GRCh38]
Chr4:155665567 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.532T>C (p.Ser178Pro) single nucleotide variant not provided [RCV001327927] Chr4:154744858 [GRCh38]
Chr4:155666010 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.612G>A (p.Ala204=) single nucleotide variant not provided [RCV001502303] Chr4:154749055 [GRCh38]
Chr4:155670207 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.657A>G (p.Ala219=) single nucleotide variant not provided [RCV001462583] Chr4:154749100 [GRCh38]
Chr4:155670252 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.72C>T (p.Leu24=) single nucleotide variant not provided [RCV001489442] Chr4:154744398 [GRCh38]
Chr4:155665550 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.165G>A (p.Arg55=) single nucleotide variant not provided [RCV001493321] Chr4:154744491 [GRCh38]
Chr4:155665643 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.534C>T (p.Ser178=) single nucleotide variant not provided [RCV001407946] Chr4:154744860 [GRCh38]
Chr4:155666012 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.603G>A (p.Leu201=) single nucleotide variant not provided [RCV001452209] Chr4:154749046 [GRCh38]
Chr4:155670198 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.153G>A (p.Leu51=) single nucleotide variant not provided [RCV001407115] Chr4:154744479 [GRCh38]
Chr4:155665631 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.525T>C (p.Ser175=) single nucleotide variant not provided [RCV001393546] Chr4:154744851 [GRCh38]
Chr4:155666003 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.224C>T (p.Pro75Leu) single nucleotide variant Leber congenital amaurosis 14 [RCV001526724]|not provided [RCV002568846] Chr4:154744550 [GRCh38]
Chr4:155665702 [GRCh37]
Chr4:4q32.1		 likely pathogenic|uncertain significance
NM_004744.5(LRAT):c.12del (p.Met5fs) deletion not provided [RCV001386113] Chr4:154744335 [GRCh38]
Chr4:155665487 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.643A>G (p.Thr215Ala) single nucleotide variant not provided [RCV001522587] Chr4:154749086 [GRCh38]
Chr4:155670238 [GRCh37]
Chr4:4q32.1		 benign
NM_004744.5(LRAT):c.157_159dup (p.Val53dup) duplication Abnormality of the eye [RCV001814350] Chr4:154744481..154744482 [GRCh38]
Chr4:155665633..155665634 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.326G>T (p.Arg109Leu) single nucleotide variant not provided [RCV002005383] Chr4:154744652 [GRCh38]
Chr4:155665804 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.608T>A (p.Leu203Ter) single nucleotide variant not provided [RCV001984451] Chr4:154749051 [GRCh38]
Chr4:155670203 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004744.5(LRAT):c.667C>A (p.Pro223Thr) single nucleotide variant not provided [RCV002005900] Chr4:154749110 [GRCh38]
Chr4:155670262 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.541T>C (p.Phe181Leu) single nucleotide variant not provided [RCV001894796] Chr4:154748984 [GRCh38]
Chr4:155670136 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.374A>G (p.Asn125Ser) single nucleotide variant not provided [RCV002006307] Chr4:154744700 [GRCh38]
Chr4:155665852 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.312del (p.Val105fs) deletion not provided [RCV001872162] Chr4:154744636 [GRCh38]
Chr4:155665788 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.314T>A (p.Val105Glu) single nucleotide variant not provided [RCV002003885] Chr4:154744640 [GRCh38]
Chr4:155665792 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.550A>T (p.Thr184Ser) single nucleotide variant not provided [RCV002000462] Chr4:154748993 [GRCh38]
Chr4:155670145 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.641A>C (p.Tyr214Ser) single nucleotide variant not provided [RCV001991454] Chr4:154749084 [GRCh38]
Chr4:155670236 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.644C>G (p.Thr215Ser) single nucleotide variant not provided [RCV002033587] Chr4:154749087 [GRCh38]
Chr4:155670239 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.599T>C (p.Val200Ala) single nucleotide variant not provided [RCV001888399] Chr4:154749042 [GRCh38]
Chr4:155670194 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.304_306del (p.Ile102del) deletion not provided [RCV002012786] Chr4:154744628..154744630 [GRCh38]
Chr4:155665780..155665782 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.149T>C (p.Val50Ala) single nucleotide variant not provided [RCV002014983] Chr4:154744475 [GRCh38]
Chr4:155665627 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.531G>T (p.Gln177His) single nucleotide variant not provided [RCV001977431] Chr4:154744857 [GRCh38]
Chr4:155666009 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.461A>G (p.Tyr154Cys) single nucleotide variant not provided [RCV001899509] Chr4:154744787 [GRCh38]
Chr4:155665939 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.551C>G (p.Thr184Ser) single nucleotide variant not provided [RCV001979014] Chr4:154748994 [GRCh38]
Chr4:155670146 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.477C>A (p.Asn159Lys) single nucleotide variant not provided [RCV001884342] Chr4:154744803 [GRCh38]
Chr4:155665955 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.562A>C (p.Ile188Leu) single nucleotide variant not provided [RCV001997872] Chr4:154749005 [GRCh38]
Chr4:155670157 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.11C>A (p.Pro4His) single nucleotide variant not provided [RCV001865103] Chr4:154744337 [GRCh38]
Chr4:155665489 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.497C>G (p.Thr166Ser) single nucleotide variant not provided [RCV001903561] Chr4:154744823 [GRCh38]
Chr4:155665975 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.545G>A (p.Cys182Tyr) single nucleotide variant not provided [RCV001976297] Chr4:154748988 [GRCh38]
Chr4:155670140 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.359C>G (p.Ala120Gly) single nucleotide variant not provided [RCV001935292] Chr4:154744685 [GRCh38]
Chr4:155665837 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.198A>C (p.Gly66=) single nucleotide variant not provided [RCV002107730] Chr4:154744524 [GRCh38]
Chr4:155665676 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.241C>T (p.Leu81=) single nucleotide variant not provided [RCV002145909] Chr4:154744567 [GRCh38]
Chr4:155665719 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.126C>T (p.Thr42=) single nucleotide variant not provided [RCV002092669] Chr4:154744452 [GRCh38]
Chr4:155665604 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.213C>T (p.Ala71=) single nucleotide variant not provided [RCV002082442] Chr4:154744539 [GRCh38]
Chr4:155665691 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.624T>C (p.Cys208=) single nucleotide variant LRAT-related disorder [RCV003971098]|not provided [RCV002143638] Chr4:154749067 [GRCh38]
Chr4:155670219 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.492C>T (p.Phe164=) single nucleotide variant not provided [RCV002154923] Chr4:154744818 [GRCh38]
Chr4:155665970 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.556A>C (p.Lys186Gln) single nucleotide variant Leber congenital amaurosis 14 [RCV004691612] Chr4:154748999 [GRCh38]
Chr4:155670151 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu) indel Leber congenital amaurosis [RCV003236542] Chr4:154744366..154744367 [GRCh38]
Chr4:155665518..155665519 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004744.5(LRAT):c.83G>A (p.Gly28Asp) single nucleotide variant not provided [RCV002301497] Chr4:154744409 [GRCh38]
Chr4:155665561 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.177C>A (p.Thr59=) single nucleotide variant not provided [RCV002861263] Chr4:154744503 [GRCh38]
Chr4:155665655 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.152T>C (p.Leu51Pro) single nucleotide variant not provided [RCV002842795] Chr4:154744478 [GRCh38]
Chr4:155665630 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.119A>C (p.Tyr40Ser) single nucleotide variant Inborn genetic diseases [RCV002778098] Chr4:154744445 [GRCh38]
Chr4:155665597 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.649C>T (p.Leu217Phe) single nucleotide variant not provided [RCV002619544] Chr4:154749092 [GRCh38]
Chr4:155670244 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.486G>A (p.Glu162=) single nucleotide variant not provided [RCV002780884] Chr4:154744812 [GRCh38]
Chr4:155665964 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.226G>A (p.Asp76Asn) single nucleotide variant not provided [RCV002843947] Chr4:154744552 [GRCh38]
Chr4:155665704 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.656C>A (p.Ala219Glu) single nucleotide variant not provided [RCV002761423] Chr4:154749099 [GRCh38]
Chr4:155670251 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.21G>A (p.Glu7=) single nucleotide variant not provided [RCV002780709] Chr4:154744347 [GRCh38]
Chr4:155665499 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.411C>G (p.Leu137=) single nucleotide variant LRAT-related disorder [RCV003898668]|not provided [RCV002976727] Chr4:154744737 [GRCh38]
Chr4:155665889 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.147C>G (p.Asp49Glu) single nucleotide variant not provided [RCV003042401] Chr4:154744473 [GRCh38]
Chr4:155665625 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.385G>C (p.Glu129Gln) single nucleotide variant not provided [RCV003008270] Chr4:154744711 [GRCh38]
Chr4:155665863 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.27G>A (p.Val9=) single nucleotide variant not provided [RCV002933086] Chr4:154744353 [GRCh38]
Chr4:155665505 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.46C>A (p.Leu16Met) single nucleotide variant not provided [RCV002745690] Chr4:154744372 [GRCh38]
Chr4:155665524 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.181T>A (p.Tyr61Asn) single nucleotide variant not provided [RCV002664350] Chr4:154744507 [GRCh38]
Chr4:155665659 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.444G>C (p.Leu148=) single nucleotide variant not provided [RCV002890586] Chr4:154744770 [GRCh38]
Chr4:155665922 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.140G>T (p.Arg47Leu) single nucleotide variant not provided [RCV003023857] Chr4:154744466 [GRCh38]
Chr4:155665618 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q31.3-32.1(chr4:154928902-155707223)x3 copy number gain not provided [RCV002508994] Chr4:154928902..155707223 [GRCh37]
Chr4:4q31.3-32.1		 not provided
NM_004744.5(LRAT):c.414C>A (p.Asn138Lys) single nucleotide variant not provided [RCV002666618] Chr4:154744740 [GRCh38]
Chr4:155665892 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.66C>T (p.Phe22=) single nucleotide variant not provided [RCV003065830] Chr4:154744392 [GRCh38]
Chr4:155665544 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.250G>A (p.Asp84Asn) single nucleotide variant not provided [RCV003044353] Chr4:154744576 [GRCh38]
Chr4:155665728 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.560T>C (p.Ile187Thr) single nucleotide variant not provided [RCV002770170] Chr4:154749003 [GRCh38]
Chr4:155670155 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.582T>C (p.Ser194=) single nucleotide variant not provided [RCV002647468] Chr4:154749025 [GRCh38]
Chr4:155670177 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.557A>C (p.Lys186Thr) single nucleotide variant not provided [RCV002856201] Chr4:154749000 [GRCh38]
Chr4:155670152 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.294C>A (p.Ile98=) single nucleotide variant not provided [RCV003026680] Chr4:154744620 [GRCh38]
Chr4:155665772 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.384C>G (p.Asp128Glu) single nucleotide variant LRAT-related disorder [RCV004756422]|not provided [RCV002770236] Chr4:154744710 [GRCh38]
Chr4:155665862 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.49CTC[1] (p.Leu18del) microsatellite not provided [RCV003051719] Chr4:154744375..154744377 [GRCh38]
Chr4:155665527..155665529 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.642C>T (p.Tyr214=) single nucleotide variant not provided [RCV002608911] Chr4:154749085 [GRCh38]
Chr4:155670237 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.97G>A (p.Asp33Asn) single nucleotide variant not provided [RCV002608476] Chr4:154744423 [GRCh38]
Chr4:155665575 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.647C>T (p.Thr216Ile) single nucleotide variant Inborn genetic diseases [RCV003368478] Chr4:154749090 [GRCh38]
Chr4:155670242 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4q26-32.3(chr4:117518683-168174703)x3 copy number gain not provided [RCV003484198] Chr4:117518683..168174703 [GRCh37]
Chr4:4q26-32.3		 pathogenic
NM_004744.5(LRAT):c.540+18C>G single nucleotide variant not provided [RCV003570371] Chr4:154744884 [GRCh38]
Chr4:155666036 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.441G>A (p.Lys147=) single nucleotide variant not provided [RCV003696362] Chr4:154744767 [GRCh38]
Chr4:155665919 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.282C>T (p.Asn94=) single nucleotide variant not provided [RCV003579205] Chr4:154744608 [GRCh38]
Chr4:155665760 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.300C>G (p.Gly100=) single nucleotide variant not provided [RCV003693279] Chr4:154744626 [GRCh38]
Chr4:155665778 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.429G>C (p.Arg143=) single nucleotide variant not provided [RCV003691466] Chr4:154744755 [GRCh38]
Chr4:155665907 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.81G>T (p.Ser27=) single nucleotide variant not provided [RCV003687909] Chr4:154744407 [GRCh38]
Chr4:155665559 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.367C>T (p.Leu123=) single nucleotide variant not provided [RCV003688787] Chr4:154744693 [GRCh38]
Chr4:155665845 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.198del (p.Asp67fs) deletion not provided [RCV003694075] Chr4:154744524 [GRCh38]
Chr4:155665676 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.444G>T (p.Leu148=) single nucleotide variant not provided [RCV003543890] Chr4:154744770 [GRCh38]
Chr4:155665922 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.654T>G (p.Pro218=) single nucleotide variant not provided [RCV003575805] Chr4:154749097 [GRCh38]
Chr4:155670249 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.678A>G (p.Leu226=) single nucleotide variant not provided [RCV003693540] Chr4:154749121 [GRCh38]
Chr4:155670273 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.9C>T (p.Asn3=) single nucleotide variant not provided [RCV003827842] Chr4:154744335 [GRCh38]
Chr4:155665487 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.541-9A>G single nucleotide variant not provided [RCV003659337] Chr4:154748975 [GRCh38]
Chr4:155670127 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.144C>T (p.Gly48=) single nucleotide variant not provided [RCV003840423] Chr4:154744470 [GRCh38]
Chr4:155665622 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.339G>A (p.Val113=) single nucleotide variant not provided [RCV003667914] Chr4:154744665 [GRCh38]
Chr4:155665817 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.540+12G>T single nucleotide variant not provided [RCV003703171] Chr4:154744878 [GRCh38]
Chr4:155666030 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.414C>T (p.Asn138=) single nucleotide variant not provided [RCV003561863] Chr4:154744740 [GRCh38]
Chr4:155665892 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.297G>A (p.Leu99=) single nucleotide variant not provided [RCV003702643] Chr4:154744623 [GRCh38]
Chr4:155665775 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.501C>T (p.Tyr167=) single nucleotide variant not provided [RCV003856032] Chr4:154744827 [GRCh38]
Chr4:155665979 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.472T>C (p.Trp158Arg) single nucleotide variant not provided [RCV003666811] Chr4:154744798 [GRCh38]
Chr4:155665950 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.163del (p.Arg55fs) deletion not provided [RCV003699406] Chr4:154744486 [GRCh38]
Chr4:155665638 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.171C>T (p.His57=) single nucleotide variant not provided [RCV003725268] Chr4:154744497 [GRCh38]
Chr4:155665649 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.540+1G>A single nucleotide variant not provided [RCV003735544] Chr4:154744867 [GRCh38]
Chr4:155666019 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.192C>T (p.Tyr64=) single nucleotide variant not provided [RCV003734640] Chr4:154744518 [GRCh38]
Chr4:155665670 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.420G>A (p.Glu140=) single nucleotide variant not provided [RCV003708450] Chr4:154744746 [GRCh38]
Chr4:155665898 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.466C>T (p.Leu156=) single nucleotide variant not provided [RCV003733010] Chr4:154744792 [GRCh38]
Chr4:155665944 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.159G>C (p.Val53=) single nucleotide variant not provided [RCV003554522] Chr4:154744485 [GRCh38]
Chr4:155665637 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.168C>T (p.Thr56=) single nucleotide variant not provided [RCV003865717] Chr4:154744494 [GRCh38]
Chr4:155665646 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.99_100del (p.Asp33fs) deletion not provided [RCV003564523] Chr4:154744424..154744425 [GRCh38]
Chr4:155665576..155665577 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.516C>T (p.Thr172=) single nucleotide variant not provided [RCV003719456] Chr4:154744842 [GRCh38]
Chr4:155665994 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3 copy number gain not specified [RCV003986496] Chr4:101203509..190957473 [GRCh37]
Chr4:4q24-35.2		 pathogenic
NM_004744.5(LRAT):c.69G>A (p.Thr23=) single nucleotide variant not provided [RCV003709411] Chr4:154744395 [GRCh38]
Chr4:155665547 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.249C>T (p.Asp83=) single nucleotide variant not provided [RCV003721576] Chr4:154744575 [GRCh38]
Chr4:155665727 [GRCh37]
Chr4:4q32.1		 likely benign
GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3 copy number gain not specified [RCV003986533] Chr4:123399154..190957473 [GRCh37]
Chr4:4q27-35.2		 pathogenic
NM_004744.5(LRAT):c.240C>T (p.Ala80=) single nucleotide variant not provided [RCV003870139] Chr4:154744566 [GRCh38]
Chr4:155665718 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.174G>C (p.Leu58=) single nucleotide variant not provided [RCV003735743] Chr4:154744500 [GRCh38]
Chr4:155665652 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.427_428del (p.Arg143fs) microsatellite not provided [RCV003867821] Chr4:154744750..154744751 [GRCh38]
Chr4:155665902..155665903 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.429G>A (p.Arg143=) single nucleotide variant not provided [RCV003848289] Chr4:154744755 [GRCh38]
Chr4:155665907 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.471G>A (p.Leu157=) single nucleotide variant not provided [RCV003711684] Chr4:154744797 [GRCh38]
Chr4:155665949 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.462C>A (p.Tyr154Ter) single nucleotide variant not provided [RCV003563222] Chr4:154744788 [GRCh38]
Chr4:155665940 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.597A>C (p.Ala199=) single nucleotide variant not provided [RCV003862725] Chr4:154749040 [GRCh38]
Chr4:155670192 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.31T>C (p.Leu11=) single nucleotide variant not provided [RCV003709608] Chr4:154744357 [GRCh38]
Chr4:155665509 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.132T>C (p.Ser44=) single nucleotide variant not provided [RCV003840996] Chr4:154744458 [GRCh38]
Chr4:155665610 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.579A>G (p.Arg193=) single nucleotide variant not provided [RCV003565103] Chr4:154749022 [GRCh38]
Chr4:155670174 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.597A>G (p.Ala199=) single nucleotide variant not provided [RCV003711162] Chr4:154749040 [GRCh38]
Chr4:155670192 [GRCh37]
Chr4:4q32.1		 likely benign
NM_004744.5(LRAT):c.246_249del (p.Asp83fs) deletion Retinal dystrophy [RCV003890934] Chr4:154744569..154744572 [GRCh38]
Chr4:155665721..155665724 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.418G>A (p.Glu140Lys) single nucleotide variant Retinal dystrophy [RCV003890935] Chr4:154744744 [GRCh38]
Chr4:155665896 [GRCh37]
Chr4:4q32.1		 uncertain significance
GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3 copy number gain not provided [RCV003885507] Chr4:45455621..191003541 [GRCh37]
Chr4:4p12-q35.2		 pathogenic
GRCh38/hg38 4q31.3-32.1(chr4:153986026-156952467) copy number loss not provided [RCV004555213] Chr4:153986026..156952467 [GRCh38]
Chr4:4q31.3-32.1		 uncertain significance
NM_004744.5(LRAT):c.137A>G (p.His46Arg) single nucleotide variant Inborn genetic diseases [RCV004410645] Chr4:154744463 [GRCh38]
Chr4:155665615 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.652C>A (p.Pro218Thr) single nucleotide variant Inborn genetic diseases [RCV004410646] Chr4:154749095 [GRCh38]
Chr4:155670247 [GRCh37]
Chr4:4q32.1		 uncertain significance
NC_000004.11:g.(?_155665479)_(155670288_?)del deletion not provided [RCV004580838] Chr4:155665479..155670288 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_155665479)_(155666038_?)del deletion not provided [RCV004580839] Chr4:155665479..155666038 [GRCh37]
Chr4:4q32.1		 pathogenic
NC_000004.11:g.(?_155665577)_(155668060_?)del deletion not provided [RCV004580840] Chr4:155665577..155668060 [GRCh37]
Chr4:4q32.1		 pathogenic
NM_004744.5(LRAT):c.470T>C (p.Leu157Pro) single nucleotide variant Leber congenital amaurosis [RCV004689544] Chr4:154744796 [GRCh38]
Chr4:155665948 [GRCh37]
Chr4:4q32.1		 likely pathogenic
NM_004744.5(LRAT):c.274G>A (p.Val92Ile) single nucleotide variant Inborn genetic diseases [RCV004637446] Chr4:154744600 [GRCh38]
Chr4:155665752 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.578G>T (p.Arg193Ile) single nucleotide variant Leber congenital amaurosis 14 [RCV004701248] Chr4:154749021 [GRCh38]
Chr4:155670173 [GRCh37]
Chr4:4q32.1		 uncertain significance
NM_004744.5(LRAT):c.676del (p.Leu226fs) deletion Leber congenital amaurosis 14 [RCV004764605] Chr4:154749118 [GRCh38]
Chr4:155670270 [GRCh37]
Chr4:4q32.1		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2369
Count of miRNA genes:961
Interacting mature miRNAs:1137
Transcripts:ENST00000336356, ENST00000499392, ENST00000500890, ENST00000502474, ENST00000502525, ENST00000507827, ENST00000510733, ENST00000510919
Prediction methods:Microtar, Miranda, Rnahybrid
Result types:miRGate_prediction

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

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

Markers in Region
SHGC-67616  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,673,412 - 155,673,606UniSTSGRCh37
Build 364155,892,862 - 155,893,056RGDNCBI36
Celera4153,004,390 - 153,004,584RGD
Cytogenetic Map4q32.1UniSTS
HuRef4151,414,100 - 151,414,294UniSTS
GeneMap99-GB4 RH Map4641.16UniSTS
NCBI RH Map41607.8UniSTS
SHGC-79148  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,673,204 - 155,673,515UniSTSGRCh37
Build 364155,892,654 - 155,892,965RGDNCBI36
Celera4153,004,182 - 153,004,493RGD
Cytogenetic Map4q32.1UniSTS
HuRef4151,413,892 - 151,414,203UniSTS
TNG Radiation Hybrid Map493193.0UniSTS
LRAT_8915  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,671,473 - 155,672,355UniSTSGRCh37
Build 364155,890,923 - 155,891,805RGDNCBI36
Celera4153,002,451 - 153,003,333RGD
SHGC-67662  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh374155,671,263 - 155,671,395UniSTSGRCh37
Build 364155,890,713 - 155,890,845RGDNCBI36
Celera4153,002,241 - 153,002,373RGD
Cytogenetic Map4q32.1UniSTS
HuRef4151,411,844 - 151,411,976UniSTS
GeneMap99-GB4 RH Map4632.92UniSTS
NCBI RH Map41615.6UniSTS
D8S2278  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map3p25.3-p24.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q34-q35UniSTS
Cytogenetic MapXp22.1UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map15q22.1UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map14q22UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q12-q13UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map4q31UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic MapXq26.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map13q33.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map1q31-q41UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map11q12.2UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map3p12.1UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map17q24.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map12q14.3-q15UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map3q28UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map3p21.32UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map5q21.2UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map2q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map14q31UniSTS
D11S2921  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map1p36.1UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q13.2UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map10q24.33UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map12q21.33UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic MapXp11.4-p11.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map2q33-q34UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic MapYp11.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map18pter-p11.3UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map4q34.1UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map7q21.12UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map6p22UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map8q24UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map7p21.2UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q42.1UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map12p11UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map11p13-p12UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map5q12-q13UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map20p12.3-p11.21UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map12q13-q14UniSTS
Cytogenetic Map6q14.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map1p31UniSTS
Cytogenetic Map15q15-q21.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map11q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21p11.1UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic MapXq25-q26.3UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map12q24.31-q24.32UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map18p11.32UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map10q23.33UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map9p24.1-p23UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map1q24-q25.3UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map12p11.22UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map9p11UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p22.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map15q22-q23UniSTS
Cytogenetic Map9p21UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q22-qterUniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map18q23UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map2q21.2UniSTS
Cytogenetic Map15q13.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map19p13.2-cenUniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map9q33UniSTS
Cytogenetic Map1p36-p35UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q23UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic MapXq26.2UniSTS
Cytogenetic Map8q13.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map3p26.1UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic MapXq21.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map5p13.1-p12UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map6q14.3-q16.1UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map6q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q21.1-q21.3UniSTS
Cytogenetic Map6q11.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map22q13.1-q13.2UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map12p13.2-p12.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map5p15.2UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map10q24-q25UniSTS
Cytogenetic Map7p11.1UniSTS
Cytogenetic Map14q11.2-q21UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map5p14.3UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map9p13.1UniSTS
Cytogenetic Map9q34.13UniSTS
D8S2279  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map21q22.12UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map15q22.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map17q24.2UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map15q13.2UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map6p21.1-p12UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map8p23UniSTS
Cytogenetic Map11q13.2-q13.3UniSTS
Cytogenetic Map13q14.1-q14.3UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map3q13.1-q13.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map17p13.1-p12UniSTS
Cytogenetic Map18q21.33UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q32UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map14q22.3UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map1q23.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map4q32.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map5q14.2UniSTS
Cytogenetic Map4q32.1UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map11q14.1UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map11q23UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map20q11UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map18p11.31UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map19p13.3UniSTS
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Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map6p12.3-p11.2UniSTS
Cytogenetic Map6q16.1-q16.3UniSTS
Cytogenetic Map22q11UniSTS
Cytogenetic Map7q31.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3q25.2UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map3q23-q24UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map7q21.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map22q12-q13UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map9q33.2UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map8p11UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map1q24.3UniSTS
Cytogenetic Map9q33.1UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map2p16.2UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map13q12.2UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map1q23UniSTS
Cytogenetic Map11q12-q13UniSTS
Cytogenetic Map11q13.3UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map11q12.1UniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map8p21UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map4q32.3UniSTS
Cytogenetic Map16p13.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map10q26.1UniSTS
Cytogenetic Map9q32-q33.3UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q33-q34UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map13q32UniSTS
Cytogenetic Map9q22.32UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p36.3-p36.2UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map5q22UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map3p26.3UniSTS
Cytogenetic Map2q11.1UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map12q24.23UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map20p12.1UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic MapXp22.31UniSTS
Cytogenetic MapXp21.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3q24UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map14q11.2-q12UniSTS
Cytogenetic Map3p24UniSTS
Cytogenetic Map12q23.3UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map8q13UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map3p22.3UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11cen-q12UniSTS
Cytogenetic Map11q25UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map1p35-p34UniSTS
Cytogenetic Map4p13-p12UniSTS
Cytogenetic Map10q21-q22UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map7p13-p11.1UniSTS
Cytogenetic Map9q31-q34UniSTS
Cytogenetic Map7q21.1-q22UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic MapXp22.13UniSTS
Cytogenetic Map13q12.12UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1pUniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map2qUniSTS
Cytogenetic Map5q13.1UniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map2p22UniSTS
Cytogenetic Map5q14.3UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map5q23.2UniSTS
Cytogenetic Map2p24.1UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map12p13.32UniSTS
Cytogenetic Map9p21.1UniSTS
Cytogenetic Map9q34.2-q34.3UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
renal system
reproductive system
respiratory system
sensory system
visual system
996 2328 2176 1848 4885 1691 2253 1 614 663 458 2040 5015 4557 36 3689 806 1679 1527 171 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_009110 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001301645 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_004744 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047416405 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054351242 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XR_938793 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AC009567 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AC107385 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF071510 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK056234 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK292598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY546085 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY546086 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC031053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068274 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DB364008 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ266889 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000336356   ⟹   ENSP00000337224
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,744,000 - 154,753,120 (+)Ensembl
Ensembl Acc Id: ENST00000499392
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,627,072 - 154,748,320 (+)Ensembl
Ensembl Acc Id: ENST00000500890
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,626,945 - 154,699,900 (+)Ensembl
Ensembl Acc Id: ENST00000502474
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,745,374 - 154,749,420 (+)Ensembl
Ensembl Acc Id: ENST00000502525   ⟹   ENSP00000422324
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,626,961 - 154,744,533 (+)Ensembl
Ensembl Acc Id: ENST00000507827   ⟹   ENSP00000426761
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,740,838 - 154,751,035 (+)Ensembl
Ensembl Acc Id: ENST00000510733
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,744,000 - 154,753,118 (+)Ensembl
Ensembl Acc Id: ENST00000510919
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl4154,745,447 - 154,749,180 (+)Ensembl
RefSeq Acc Id: NM_001301645   ⟹   NP_001288574
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,740,838 - 154,753,120 (+)NCBI
CHM1_14155,639,879 - 155,652,148 (+)NCBI
T2T-CHM13v2.04158,072,645 - 158,084,927 (+)NCBI
Sequence:
RefSeq Acc Id: NM_004744   ⟹   NP_004735
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,744,000 - 154,753,120 (+)NCBI
GRCh374155,665,163 - 155,674,270 (+)ENTREZGENE
GRCh374155,665,163 - 155,674,270 (+)NCBI
Build 364155,884,613 - 155,893,720 (+)NCBI Archive
HuRef4151,405,746 - 151,414,958 (+)ENTREZGENE
CHM1_14155,643,019 - 155,652,148 (+)NCBI
T2T-CHM13v2.04158,075,808 - 158,084,927 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047416405   ⟹   XP_047272361
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,744,000 - 154,748,382 (+)NCBI
RefSeq Acc Id: XM_054351242   ⟹   XP_054207217
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.04158,075,808 - 158,080,190 (+)NCBI
RefSeq Acc Id: NP_004735   ⟸   NM_004744
- Peptide Label: precursor
- UniProtKB: A8K983 (UniProtKB/Swiss-Prot),   Q8N716 (UniProtKB/Swiss-Prot),   O95237 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_001288574   ⟸   NM_001301645
- Peptide Label: precursor
- UniProtKB: A8K983 (UniProtKB/Swiss-Prot),   Q8N716 (UniProtKB/Swiss-Prot),   O95237 (UniProtKB/Swiss-Prot)
- Sequence:
Ensembl Acc Id: ENSP00000422324   ⟸   ENST00000502525
Ensembl Acc Id: ENSP00000337224   ⟸   ENST00000336356
Ensembl Acc Id: ENSP00000426761   ⟸   ENST00000507827
RefSeq Acc Id: XP_047272361   ⟸   XM_047416405
- Peptide Label: isoform X1
RefSeq Acc Id: XP_054207217   ⟸   XM_054351242
- Peptide Label: isoform X1
Protein Domains
LRAT

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-O95237-F1-model_v2 AlphaFold O95237 1-230 view protein structure

Promoters
RGD ID:6868716
Promoter ID:EPDNEW_H7523
Type:multiple initiation site
Name:LRAT_2
Description:lecithin retinol acyltransferase (phosphatidylcholine--retinolO-acyltransferase)
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H7521  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh384154,744,000 - 154,744,060EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:6685 AgrOrtholog
COSMIC LRAT COSMIC
Ensembl Genes ENSG00000121207 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000336356 ENTREZGENE
  ENST00000336356.4 UniProtKB/Swiss-Prot
  ENST00000502525.5 UniProtKB/TrEMBL
  ENST00000507827 ENTREZGENE
  ENST00000507827.5 UniProtKB/Swiss-Prot
Gene3D-CATH endopeptidase domain like (from Nostoc punctiforme) UniProtKB/Swiss-Prot
GTEx ENSG00000121207 GTEx
HGNC ID HGNC:6685 ENTREZGENE
Human Proteome Map LRAT Human Proteome Map
InterPro LRAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  LRAT_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:9227 UniProtKB/Swiss-Prot
NCBI Gene 9227 ENTREZGENE
OMIM 604863 OMIM
PANTHER LECITHIN RETINOL ACYLTRANSFERASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR46678 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam LRAT UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA30443 PharmGKB
PROSITE LRAT UniProtKB/Swiss-Prot
UniProt A8K983 ENTREZGENE
  D6RC94_HUMAN UniProtKB/TrEMBL
  LRAT_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q8N716 ENTREZGENE
UniProt Secondary A8K983 UniProtKB/Swiss-Prot
  Q8N716 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2017-08-08 LRAT  lecithin retinol acyltransferase  LRAT  lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)  Symbol and/or name change 5135510 APPROVED