FZD4 (frizzled class receptor 4) - Rat Genome Database

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Gene: FZD4 (frizzled class receptor 4) Homo sapiens
Analyze
Symbol: FZD4
Name: frizzled class receptor 4
RGD ID: 736680
HGNC Page HGNC:4042
Description: Enables several functions, including PDZ domain binding activity; protein dimerization activity; and transmembrane signaling receptor activity. Involved in several processes, including cell surface receptor signaling pathway; positive regulation of Wnt signaling pathway; and retina vasculature morphogenesis in camera-type eye. Located in cell surface and plasma membrane. Implicated in exudative vitreoretinopathy 1. Biomarker of prostate carcinoma in situ.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: CD344; EVR1; exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome); FEVR; frizzled 4, seven transmembrane spanning receptor; frizzled family receptor 4; frizzled homolog 4; frizzled-4; Fz-4; Fz4; FZD4S; FzE4; GPCR; hFz4; MGC34390; WNT receptor frizzled-4
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381186,945,679 - 86,955,395 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1186,945,679 - 86,955,395 (-)EnsemblGRCh38hg38GRCh38
GRCh371186,656,721 - 86,666,437 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361186,334,369 - 86,344,081 (-)NCBINCBI36Build 36hg18NCBI36
Build 341186,334,369 - 86,344,081NCBI
Celera1183,968,074 - 83,977,786 (-)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1182,945,786 - 82,952,580 (-)NCBIHuRef
CHM1_11186,542,809 - 86,552,528 (-)NCBICHM1_1
T2T-CHM13v2.01186,886,525 - 86,896,237 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(+)-schisandrin B  (ISO)
1,2-dimethylhydrazine  (ISO)
17beta-estradiol  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
3,3',4,4',5-pentachlorobiphenyl  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (ISO)
4-hydroxyphenyl retinamide  (ISO)
5-aza-2'-deoxycytidine  (ISO)
8-Br-cAMP  (EXP)
acetaldehyde  (ISO)
acetamide  (ISO)
aflatoxin B1  (EXP,ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
benzo[a]pyrene  (EXP,ISO)
benzo[b]fluoranthene  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
cadmium dichloride  (ISO)
carbamazepine  (EXP)
CGP 52608  (EXP)
chromium(6+)  (ISO)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
cyclosporin A  (EXP)
deguelin  (EXP)
dexamethasone  (EXP)
dextran sulfate  (ISO)
diazinon  (ISO)
diclofenac  (EXP)
dioxygen  (EXP)
endosulfan  (ISO)
epoxiconazole  (ISO)
ethanol  (ISO)
flusilazole  (ISO)
folic acid  (ISO)
gentamycin  (ISO)
glyphosate  (EXP)
gold atom  (ISO)
gold(0)  (ISO)
hydrogen cyanide  (ISO)
hydrogen peroxide  (EXP)
indometacin  (EXP)
leflunomide  (EXP)
lipopolysaccharide  (EXP)
lithium chloride  (EXP)
menadione  (EXP)
methotrexate  (ISO)
methoxychlor  (ISO)
mifepristone  (EXP)
N(4)-hydroxycytidine  (ISO)
nickel atom  (EXP,ISO)
ozone  (ISO)
paracetamol  (EXP,ISO)
paraquat  (EXP,ISO)
perfluorooctane-1-sulfonic acid  (ISO)
phenobarbital  (EXP)
potassium cyanide  (ISO)
quercitrin  (EXP)
resveratrol  (EXP)
S-(1,2-dichlorovinyl)-L-cysteine  (EXP)
sunitinib  (EXP)
temozolomide  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
valproic acid  (EXP,ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
angiogenesis  (IEA,ISO)
blood vessel development  (IEA,ISO)
canonical Wnt signaling pathway  (IBA,IDA,IEA,ISO,TAS)
cell population proliferation  (IEA,ISO)
cell surface receptor signaling pathway  (IEA)
cellular response to leukemia inhibitory factor  (IEA,ISO)
cellular response to retinoic acid  (ISS)
cerebellum vasculature morphogenesis  (IEA)
cytokine-mediated signaling pathway  (IEA)
endothelial cell differentiation  (IEA,ISO)
establishment of blood-brain barrier  (IEA,ISO)
extracellular matrix-cell signaling  (IEA)
G protein-coupled receptor signaling pathway  (IEA)
locomotion involved in locomotory behavior  (IEA,ISO)
luteinization  (IEA,ISO)
negative regulation of cell-substrate adhesion  (IEA,IMP)
neuron differentiation  (ISS)
non-canonical Wnt signaling pathway  (IBA,IEA,TAS)
Norrin signaling pathway  (IDA,IEA)
positive regulation of cell migration  (IMP)
positive regulation of dendrite morphogenesis  (IEA,ISO)
positive regulation of DNA-templated transcription  (IDA,IEA)
positive regulation of neuron projection arborization  (IEA,ISS)
positive regulation of Wnt signaling pathway  (IDA)
progesterone secretion  (IEA,ISO)
regulation of vascular endothelial growth factor receptor signaling pathway  (IEA,ISO)
response to hypoxia  (IEA,ISO)
retina vasculature development in camera-type eye  (IEA,ISO)
retina vasculature morphogenesis in camera-type eye  (IBA,IEA,IMP,ISO)
retinal blood vessel morphogenesis  (IEA)
sensory perception of sound  (IEA,ISO)
signal transduction  (IEA)
substrate adhesion-dependent cell spreading  (IEA,ISO)
vasculogenesis  (IEA,ISO)
Wnt signaling pathway  (IEA,ISS)
Wnt signaling pathway, calcium modulating pathway  (IDA)

Cellular Component

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abnormal macular morphology  (IAGP)
Abnormal optic disc morphology  (IAGP)
Abnormal retinal vascular morphology  (IAGP)
Adult onset  (IAGP)
Amblyopia  (IAGP)
Angle closure glaucoma  (IAGP)
Autosomal dominant inheritance  (IAGP)
Blindness  (IAGP)
Buphthalmos  (IAGP)
Cataract  (IAGP)
Chorioretinal atrophy  (IAGP)
Corneal opacity  (IAGP)
Developmental cataract  (IAGP)
Ectopic calcification  (IAGP)
Ectopic fovea  (IAGP)
Epiphora  (IAGP)
Epiretinal membrane  (IAGP)
Esotropia  (IAGP)
Exudative retinopathy  (IAGP)
Exudative vitreoretinopathy  (IAGP)
Falciform retinal fold  (IAGP)
Glaucoma  (IAGP)
Glial remnants anterior to the optic disc  (IAGP)
Hearing impairment  (IAGP)
Hemorrhage of the eye  (IAGP)
Hyaloid vascular remnant and retrolental mass  (IAGP)
Infantile onset  (IAGP)
Intellectual disability  (IAGP)
Intellectual disability, mild  (IAGP)
Leukocoria  (IAGP)
Lymphedema  (IAGP)
Macular edema  (IAGP)
Macular exudate  (IAGP)
Macular hypoplasia  (IAGP)
Macular telangiectasia  (IAGP)
Microcephaly  (IAGP)
Microcornea  (IAGP)
Microphthalmia  (IAGP)
Mild global developmental delay  (IAGP)
Motor delay  (IAGP)
Myopia  (IAGP)
Peripheral retinal avascularization  (IAGP)
Persistent pupillary membrane  (IAGP)
Phthisis bulbi  (IAGP)
Posterior vitreous detachment  (IAGP)
Premature birth  (IAGP)
Pseudoglioma  (IAGP)
Recurrent fractures  (IAGP)
Reduced bone mineral density  (IAGP)
Reduced visual acuity  (IAGP)
Remnants of the hyaloid vascular system  (IAGP)
Retinal arteriolar tortuosity  (IAGP)
Retinal detachment  (IAGP)
Retinal dystrophy  (IAGP)
Retinal exudate  (IAGP)
Retinal fold  (IAGP)
Retinal hole  (IAGP)
Retinal neovascularization  (IAGP)
Retinopathy of prematurity  (IAGP)
Rhegmatogenous retinal detachment  (IAGP)
Severely reduced visual acuity  (IAGP)
Shallow anterior chamber  (IAGP)
Slowly progressive  (IAGP)
Small for gestational age  (IAGP)
Strabismus  (IAGP)
Subcapsular cataract  (IAGP)
Subretinal fluid  (IAGP)
Tractional retinal detachment  (IAGP)
Vitreoretinopathy  (IAGP)
Vitreous floaters  (IAGP)
Vitreous hemorrhage  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Inducible FGFR-1 activation leads to irreversible prostate adenocarcinoma and an epithelial-to-mesenchymal transition. Acevedo VD, etal., Cancer Cell. 2007 Dec;12(6):559-71.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
4. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
5. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
6. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
7. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
8. Mutant frizzled-4 disrupts retinal angiogenesis in familial exudative vitreoretinopathy. Robitaille J, etal., Nat Genet. 2002 Oct;32(2):326-30. Epub 2002 Aug 12.
Additional References at PubMed
PMID:1598965   PMID:9707618   PMID:10544037   PMID:11401527   PMID:12044878   PMID:12067714   PMID:12477932   PMID:12958364   PMID:14507768   PMID:14688793   PMID:14737064   PMID:15024691  
PMID:15035989   PMID:15195140   PMID:15223780   PMID:15370539   PMID:15488808   PMID:15489334   PMID:15981244   PMID:17093393   PMID:17386109   PMID:17955262   PMID:18156211   PMID:18161623  
PMID:18234671   PMID:18787502   PMID:18976975   PMID:19020754   PMID:19172507   PMID:19277043   PMID:19388021   PMID:19453261   PMID:19643732   PMID:19837033   PMID:20008721   PMID:20141357  
PMID:20301326   PMID:20340138   PMID:20634891   PMID:20713528   PMID:20802536   PMID:20819778   PMID:20938005   PMID:21097938   PMID:21363911   PMID:21873635   PMID:21900206   PMID:22057916  
PMID:22574936   PMID:22575959   PMID:23077402   PMID:23376485   PMID:23441120   PMID:24386373   PMID:24744206   PMID:25198863   PMID:25424568   PMID:25711638   PMID:25751279   PMID:26119001  
PMID:26158506   PMID:26244290   PMID:26277630   PMID:26530129   PMID:27316669   PMID:27458145   PMID:27510711   PMID:27555740   PMID:27668459   PMID:28211206   PMID:28245136   PMID:28494495  
PMID:28546512   PMID:28577497   PMID:28658627   PMID:28668722   PMID:28671046   PMID:28733458   PMID:28831115   PMID:28982955   PMID:29135315   PMID:29293331   PMID:29465286   PMID:29566281  
PMID:30097784   PMID:30135577   PMID:30173892   PMID:30513533   PMID:30820142   PMID:30849938   PMID:31237656   PMID:31359032   PMID:31618077   PMID:31765079   PMID:31957812   PMID:31985040  
PMID:31999491   PMID:32420371   PMID:32814053   PMID:32828883   PMID:32889247   PMID:33302760   PMID:33961781   PMID:34021822   PMID:34199009   PMID:34860240   PMID:35022017   PMID:35352610  
PMID:35394490   PMID:36170021   PMID:37089697   PMID:37557978  


Genomics

Comparative Map Data
FZD4
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381186,945,679 - 86,955,395 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1186,945,679 - 86,955,395 (-)EnsemblGRCh38hg38GRCh38
GRCh371186,656,721 - 86,666,437 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361186,334,369 - 86,344,081 (-)NCBINCBI36Build 36hg18NCBI36
Build 341186,334,369 - 86,344,081NCBI
Celera1183,968,074 - 83,977,786 (-)NCBICelera
Cytogenetic Map11q14.2NCBI
HuRef1182,945,786 - 82,952,580 (-)NCBIHuRef
CHM1_11186,542,809 - 86,552,528 (-)NCBICHM1_1
T2T-CHM13v2.01186,886,525 - 86,896,237 (-)NCBIT2T-CHM13v2.0
Fzd4
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39789,053,574 - 89,062,341 (+)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl789,053,563 - 89,062,342 (+)EnsemblGRCm39 Ensembl
GRCm38789,404,366 - 89,410,110 (+)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl789,404,355 - 89,413,134 (+)EnsemblGRCm38mm10GRCm38
MGSCv37796,552,876 - 96,558,620 (+)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36789,279,586 - 89,285,277 (+)NCBIMGSCv36mm8
Celera786,759,990 - 86,765,732 (+)NCBICelera
Cytogenetic Map7D3NCBI
cM Map749.32NCBI
Fzd4
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81152,692,507 - 152,701,372 (+)NCBIGRCr8
mRatBN7.21143,279,934 - 143,288,799 (+)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1143,280,065 - 143,285,724 (+)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1151,227,346 - 151,236,226 (+)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01158,403,735 - 158,412,613 (+)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01151,277,642 - 151,286,520 (+)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01153,589,471 - 153,598,376 (+)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1153,589,471 - 153,598,375 (+)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01159,893,040 - 159,901,945 (+)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41145,953,743 - 145,957,666 (+)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11146,032,165 - 146,036,072 (+)NCBI
Celera1141,540,910 - 141,549,599 (+)NCBICelera
Cytogenetic Map1q32NCBI
Fzd4
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_0049554146,094,585 - 6,098,865 (+)EnsemblChiLan1.0
ChiLan1.0NW_0049554146,094,585 - 6,103,910 (+)NCBIChiLan1.0ChiLan1.0
FZD4
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2987,865,408 - 87,875,132 (-)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11188,878,954 - 88,926,949 (-)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01181,973,680 - 82,007,733 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11185,606,572 - 85,616,906 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1185,611,989 - 85,616,065 (-)Ensemblpanpan1.1panPan2
FZD4
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12112,699,886 - 12,709,132 (+)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2112,699,774 - 12,724,923 (+)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2112,566,451 - 12,575,366 (+)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02112,882,804 - 12,891,736 (+)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2112,882,819 - 12,891,405 (+)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12112,669,287 - 12,678,212 (+)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02112,740,838 - 12,749,754 (+)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02112,797,007 - 12,805,927 (+)NCBIUU_Cfam_GSD_1.0
Fzd4
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494773,060,370 - 73,067,275 (-)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_00493649814,662,659 - 14,666,883 (-)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_00493649814,657,641 - 14,666,853 (-)NCBISpeTri2.0SpeTri2.0SpeTri2.0
FZD4
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl920,717,344 - 20,721,460 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1920,714,995 - 20,721,460 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2923,000,092 - 23,006,583 (-)NCBISscrofa10.2Sscrofa10.2susScr3
FZD4
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1178,164,243 - 78,199,296 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl178,188,630 - 78,198,187 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604347,525,967 - 47,562,995 (+)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Fzd4
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248453,046,063 - 3,050,560 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248452,972,308 - 3,055,596 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in FZD4
364 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_012193.4(FZD4):c.1218TGC[1] (p.Ala408del) microsatellite not provided [RCV000519683] Chr11:86951533..86951535 [GRCh38]
Chr11:86662575..86662577 [GRCh37]
Chr11:11q14.2
likely pathogenic|uncertain significance
NM_012193.4(FZD4):c.1479_1484del (p.Met493_Trp494del) deletion Exudative vitreoretinopathy 1 [RCV000005818]|not provided [RCV000478323] Chr11:86951272..86951277 [GRCh38]
Chr11:86662314..86662319 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1501_1502del (p.Leu501fs) microsatellite Exudative vitreoretinopathy 1 [RCV000005819]|not provided [RCV001091739] Chr11:86951254..86951255 [GRCh38]
Chr11:86662296..86662297 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.1250G>A (p.Arg417Gln) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000005820]|Exudative vitreoretinopathy, digenic [RCV000005821] Chr11:86951506 [GRCh38]
Chr11:86662548 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1024A>G (p.Met342Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000005822] Chr11:86951732 [GRCh38]
Chr11:86662774 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1005G>C (p.Trp335Cys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000005823] Chr11:86951751 [GRCh38]
Chr11:86662793 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.766A>G (p.Ile256Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001262378]|Retinopathy of prematurity [RCV000005824]|not provided [RCV001493514] Chr11:86951990 [GRCh38]
Chr11:86663032 [GRCh37]
Chr11:11q14.2
pathogenic|likely benign
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000988622]|not provided [RCV000132666]|not specified [RCV000596583] Chr11:86954881 [GRCh38]
Chr11:86665923 [GRCh37]
Chr11:11q14.2
benign|likely benign|uncertain significance
GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1 copy number loss See cases [RCV000052710] Chr11:78232836..106779420 [GRCh38]
Chr11:77943882..106650146 [GRCh37]
Chr11:77621530..106155356 [NCBI36]
Chr11:11q14.1-22.3
pathogenic
GRCh38/hg38 11q14.1-22.2(chr11:85242847-102920097)x1 copy number loss See cases [RCV000052711] Chr11:85242847..102920097 [GRCh38]
Chr11:84953891..102738968 [GRCh37]
Chr11:84631539..102296037 [NCBI36]
Chr11:11q14.1-22.2
pathogenic
NM_012193.4(FZD4):c.362G>T (p.Cys121Phe) single nucleotide variant not provided [RCV000122532] Chr11:86952394 [GRCh38]
Chr11:86663436 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1508C>T (p.Thr503Met) single nucleotide variant not provided [RCV001312865] Chr11:86951248 [GRCh38]
Chr11:86662290 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.97C>T (p.Pro33Ser) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000387944]|not provided [RCV001512895]|not specified [RCV000173423] Chr11:86954989 [GRCh38]
Chr11:86666031 [GRCh37]
Chr11:11q14.2
benign|likely benign|conflicting interpretations of pathogenicity
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
GRCh38/hg38 11q13.5-22.1(chr11:75941754-98357960)x1 copy number loss See cases [RCV000133838] Chr11:75941754..98357960 [GRCh38]
Chr11:75652798..98228688 [GRCh37]
Chr11:75330446..97733898 [NCBI36]
Chr11:11q13.5-22.1
pathogenic
NM_012193.4(FZD4):c.729C>T (p.Ile243=) single nucleotide variant not provided [RCV000175839] Chr11:86952027 [GRCh38]
Chr11:86663069 [GRCh37]
Chr11:11q14.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012193.4(FZD4):c.1025T>C (p.Met342Thr) single nucleotide variant not provided [RCV000175840] Chr11:86951731 [GRCh38]
Chr11:86662773 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.288del (p.Phe97fs) deletion not provided [RCV000254871] Chr11:86952468 [GRCh38]
Chr11:86663510 [GRCh37]
Chr11:11q14.2
pathogenic
GRCh37/hg19 11q14.2(chr11:86561752-86786833)x1 copy number loss See cases [RCV000258803] Chr11:86561752..86786833 [GRCh37]
Chr11:11q14.2
pathogenic
Single allele deletion Exudative vitreoretinopathy 1 [RCV000677964] Chr11:83315294..86755595 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_012193.4(FZD4):c.1282_1285del (p.Asp428fs) microsatellite Exudative retinopathy [RCV000210225]|Exudative vitreoretinopathy 1 [RCV002250600]|not provided [RCV000598865] Chr11:86951471..86951474 [GRCh38]
Chr11:86662513..86662516 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.313A>G (p.Met105Val) single nucleotide variant Atrophia bulborum hereditaria [RCV001002698]|Exudative retinopathy [RCV000210241]|Exudative vitreoretinopathy 1 [RCV000763285]|Familial exudative vitreoretinopathy [RCV000825614]|Retinal dystrophy [RCV001073502]|not provided [RCV000255410] Chr11:86952443 [GRCh38]
Chr11:86663485 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.961G>A (p.Val321Ile) single nucleotide variant Retinal dystrophy [RCV000225370] Chr11:86951795 [GRCh38]
Chr11:86662837 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2542T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000282517] Chr11:86948600 [GRCh38]
Chr11:86659642 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.1405G>A (p.Ala469Thr) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000299714]|not provided [RCV000908556] Chr11:86951351 [GRCh38]
Chr11:86662393 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.502C>T (p.Pro168Ser) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000368489]|not provided [RCV001512894]|not specified [RCV000455735] Chr11:86952254 [GRCh38]
Chr11:86663296 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4883G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000265339] Chr11:86946259 [GRCh38]
Chr11:86657301 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4069G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000302551] Chr11:86947073 [GRCh38]
Chr11:86658115 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*3814C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000286719] Chr11:86947328 [GRCh38]
Chr11:86658370 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*2581G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000372772] Chr11:86948561 [GRCh38]
Chr11:86659603 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2971T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000270259] Chr11:86948171 [GRCh38]
Chr11:86659213 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*3909TTTG[6] microsatellite Familial exudative vitreoretinopathy [RCV000287750] Chr11:86947202..86947209 [GRCh38]
Chr11:86658244..86658251 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1121G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000324703] Chr11:86950021 [GRCh38]
Chr11:86661063 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2956_*2960delinsAGTTAAAAGC indel Familial exudative vitreoretinopathy [RCV000325052] Chr11:86948182..86948186 [GRCh38]
Chr11:86659224..86659228 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.-12C>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000325271] Chr11:86955097 [GRCh38]
Chr11:86666139 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*3574C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000399410] Chr11:86947568 [GRCh38]
Chr11:86658610 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2639A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000286550] Chr11:86948503 [GRCh38]
Chr11:86659545 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*5451G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000306458] Chr11:86945691 [GRCh38]
Chr11:86656733 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*799A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000375036] Chr11:86950343 [GRCh38]
Chr11:86661385 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*203A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000287669]|not provided [RCV001582941] Chr11:86950939 [GRCh38]
Chr11:86661981 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.-262C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000376102] Chr11:86955347 [GRCh38]
Chr11:86666389 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.48C>T (p.Gly16=) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000270196]|not provided [RCV001472851] Chr11:86955038 [GRCh38]
Chr11:86666080 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.*2779A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000271054] Chr11:86948363 [GRCh38]
Chr11:86659405 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3888G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000378738] Chr11:86947254 [GRCh38]
Chr11:86658296 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2496G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000401043] Chr11:86948646 [GRCh38]
Chr11:86659688 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*764T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000330816] Chr11:86950378 [GRCh38]
Chr11:86661420 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.1517A>G (p.Lys506Arg) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000354677]|not provided [RCV002522214] Chr11:86951239 [GRCh38]
Chr11:86662281 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*2302A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000293150] Chr11:86948840 [GRCh38]
Chr11:86659882 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1440A>G (p.Lys480=) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000259854]|not provided [RCV001248318] Chr11:86951316 [GRCh38]
Chr11:86662358 [GRCh37]
Chr11:11q14.2
benign|likely benign|uncertain significance
NM_012193.4(FZD4):c.*3700A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000334841] Chr11:86947442 [GRCh38]
Chr11:86658484 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*5077C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000357694] Chr11:86946065 [GRCh38]
Chr11:86657107 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*3909TTTG[5] microsatellite Familial exudative vitreoretinopathy [RCV000274664] Chr11:86947202..86947213 [GRCh38]
Chr11:86658244..86658255 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4068C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000359594] Chr11:86947074 [GRCh38]
Chr11:86658116 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1481C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000359674] Chr11:86949661 [GRCh38]
Chr11:86660703 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*1050T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000360667] Chr11:86950092 [GRCh38]
Chr11:86661134 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4765T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000260223] Chr11:86946377 [GRCh38]
Chr11:86657419 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*647A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000295897] Chr11:86950495 [GRCh38]
Chr11:86661537 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*779G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000280462] Chr11:86950363 [GRCh38]
Chr11:86661405 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*947G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000261353] Chr11:86950195 [GRCh38]
Chr11:86661237 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4618G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000296685] Chr11:86946524 [GRCh38]
Chr11:86657566 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*827A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000316603] Chr11:86950315 [GRCh38]
Chr11:86661357 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000339358]|not provided [RCV001653508] Chr11:86951140 [GRCh38]
Chr11:86662182 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*1298C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000265049] Chr11:86949844 [GRCh38]
Chr11:86660886 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*4867A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000318865] Chr11:86946275 [GRCh38]
Chr11:86657317 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4018T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000262911] Chr11:86947124 [GRCh38]
Chr11:86658166 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*5282_*5283del deletion Familial exudative vitreoretinopathy [RCV000266559] Chr11:86945859..86945860 [GRCh38]
Chr11:86656901..86656902 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.*1932G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000391303] Chr11:86949210 [GRCh38]
Chr11:86660252 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000393599]|not provided [RCV001468491]|not specified [RCV002248515] Chr11:86951167 [GRCh38]
Chr11:86662209 [GRCh37]
Chr11:11q14.2
benign|likely benign|uncertain significance
NM_012193.4(FZD4):c.*3402G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000368404] Chr11:86947740 [GRCh38]
Chr11:86658782 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4335T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000348166] Chr11:86946807 [GRCh38]
Chr11:86657849 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4518C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000349348] Chr11:86946624 [GRCh38]
Chr11:86657666 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
NM_012193.4(FZD4):c.*3909TTTG[7] microsatellite Familial exudative vitreoretinopathy [RCV000327472] Chr11:86947202..86947205 [GRCh38]
Chr11:86658244..86658247 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3770A>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000398644] Chr11:86947372 [GRCh38]
Chr11:86658414 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2747dup duplication Familial exudative vitreoretinopathy [RCV000321412] Chr11:86948394..86948395 [GRCh38]
Chr11:86659436..86659437 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.304T>A (p.Tyr102Asn) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000273906] Chr11:86952452 [GRCh38]
Chr11:86663494 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*538G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000350844] Chr11:86950604 [GRCh38]
Chr11:86661646 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*4775C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000375879] Chr11:86946367 [GRCh38]
Chr11:86657409 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4196A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000400330] Chr11:86946946 [GRCh38]
Chr11:86657988 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*135C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000401326] Chr11:86951007 [GRCh38]
Chr11:86662049 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2101C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000308036] Chr11:86949041 [GRCh38]
Chr11:86660083 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4171A>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000308473] Chr11:86946971 [GRCh38]
Chr11:86658013 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*2660C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000376308] Chr11:86948482 [GRCh38]
Chr11:86659524 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*2150A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000402043] Chr11:86948992 [GRCh38]
Chr11:86660034 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3909TTTG[9] microsatellite Familial exudative vitreoretinopathy [RCV000275701] Chr11:86947201..86947202 [GRCh38]
Chr11:86658243..86658244 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4079G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000406914] Chr11:86947063 [GRCh38]
Chr11:86658105 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*3197C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000408405] Chr11:86947945 [GRCh38]
Chr11:86658987 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3060del deletion Familial exudative vitreoretinopathy [RCV000314709] Chr11:86948082 [GRCh38]
Chr11:86659124 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2517A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000337504] Chr11:86948625 [GRCh38]
Chr11:86659667 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
NM_012193.4(FZD4):c.-130C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000384552] Chr11:86955215 [GRCh38]
Chr11:86666257 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
NM_012193.4(FZD4):c.*2047C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000362704] Chr11:86949095 [GRCh38]
Chr11:86660137 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*5368C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000363511] Chr11:86945774 [GRCh38]
Chr11:86656816 [GRCh37]
Chr11:11q14.2
benign|likely benign
NM_012193.4(FZD4):c.*4664T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000388699] Chr11:86946478 [GRCh38]
Chr11:86657520 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln) single nucleotide variant not provided [RCV000266729] Chr11:86954968 [GRCh38]
Chr11:86666010 [GRCh37]
Chr11:11q14.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=) single nucleotide variant not provided [RCV000267620] Chr11:86951562 [GRCh38]
Chr11:86662604 [GRCh37]
Chr11:11q14.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012193.4(FZD4):c.740G>A (p.Arg247Lys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV003313732] Chr11:86952016 [GRCh38]
Chr11:86663058 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.964A>T (p.Ile322Phe) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001270177] Chr11:86951792 [GRCh38]
Chr11:86662834 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.*6G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000303066] Chr11:86951136 [GRCh38]
Chr11:86662178 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1541C>T (p.Ser514Phe) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000304569] Chr11:86951215 [GRCh38]
Chr11:86662257 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*154C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000347418] Chr11:86950988 [GRCh38]
Chr11:86662030 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*5250del deletion Familial exudative vitreoretinopathy [RCV000305298] Chr11:86945892 [GRCh38]
Chr11:86656934 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3909TTTG[4] microsatellite Familial exudative vitreoretinopathy [RCV000384531] Chr11:86947202..86947217 [GRCh38]
Chr11:86658244..86658259 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4678A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000317738] Chr11:86946464 [GRCh38]
Chr11:86657506 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2818G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV000365774] Chr11:86948324 [GRCh38]
Chr11:86659366 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*672C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000385312] Chr11:86950470 [GRCh38]
Chr11:86661512 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4516C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000387594] Chr11:86946626 [GRCh38]
Chr11:86657668 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3042A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000369520] Chr11:86948100 [GRCh38]
Chr11:86659142 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2181C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000352749] Chr11:86948961 [GRCh38]
Chr11:86660003 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1695A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000309708] Chr11:86949447 [GRCh38]
Chr11:86660489 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2619T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000322734] Chr11:86948523 [GRCh38]
Chr11:86659565 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3746C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000298632] Chr11:86947396 [GRCh38]
Chr11:86658438 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3792A>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000339424] Chr11:86947350 [GRCh38]
Chr11:86658392 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.-255G>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000340187] Chr11:86955340 [GRCh38]
Chr11:86666382 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3479C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000299641] Chr11:86947663 [GRCh38]
Chr11:86658705 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4083A>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000342199] Chr11:86947059 [GRCh38]
Chr11:86658101 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.-252C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV000289905] Chr11:86955337 [GRCh38]
Chr11:86666379 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*4414T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV000290933] Chr11:86946728 [GRCh38]
Chr11:86657770 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*345A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV000397453] Chr11:86950797 [GRCh38]
Chr11:86661839 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1513C>T (p.Gln505Ter) single nucleotide variant not provided [RCV000520718] Chr11:86951243 [GRCh38]
Chr11:86662285 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.1009C>A (p.His337Asn) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111580]|not provided [RCV000593538] Chr11:86951747 [GRCh38]
Chr11:86662789 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221)x1 copy number loss See cases [RCV000446395] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799)x1 copy number loss See cases [RCV000448436] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21
likely pathogenic
NM_012193.4(FZD4):c.676T>C (p.Trp226Arg) single nucleotide variant not provided [RCV000478882] Chr11:86952080 [GRCh38]
Chr11:86663122 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.611G>A (p.Cys204Tyr) single nucleotide variant not provided [RCV000478908] Chr11:86952145 [GRCh38]
Chr11:86663187 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.40_49del (p.Pro14fs) microsatellite Familial exudative vitreoretinopathy [RCV000509233]|not provided [RCV001857294] Chr11:86955037..86955046 [GRCh38]
Chr11:86666079..86666088 [GRCh37]
Chr11:11q14.2
pathogenic|not provided
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
NM_012193.4(FZD4):c.666G>A (p.Trp222Ter) single nucleotide variant not provided [RCV000627338] Chr11:86952090 [GRCh38]
Chr11:86663132 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1350T>A (p.Cys450Ter) single nucleotide variant not provided [RCV003318028] Chr11:86951406 [GRCh38]
Chr11:86662448 [GRCh37]
Chr11:11q14.2
likely pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:85506017-86930835)x3 copy number gain See cases [RCV000512406] Chr11:85506017..86930835 [GRCh37]
Chr11:11q14.1-14.2
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:81771852-90851187) copy number loss Intellectual disability [RCV000721939] Chr11:81771852..90851187 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25
pathogenic
GRCh37/hg19 11q14.1-23.2(chr11:80053454-113316236)x1 copy number loss not provided [RCV000737595] Chr11:80053454..113316236 [GRCh37]
Chr11:11q14.1-23.2
pathogenic
GRCh37/hg19 11q14.1-21(chr11:83179196-94716998)x3 copy number gain not provided [RCV000750120] Chr11:83179196..94716998 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_012193.4(FZD4):c.285+179T>C single nucleotide variant not provided [RCV001546254] Chr11:86954622 [GRCh38]
Chr11:86665664 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.*3974C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114665] Chr11:86947168 [GRCh38]
Chr11:86658210 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.829C>T (p.Arg277Trp) single nucleotide variant Inborn genetic diseases [RCV002554383]|not provided [RCV001055232] Chr11:86951927 [GRCh38]
Chr11:86662969 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*461G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114893] Chr11:86950681 [GRCh38]
Chr11:86661723 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*173T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114895] Chr11:86950969 [GRCh38]
Chr11:86662011 [GRCh37]
Chr11:11q14.2
uncertain significance
NC_000011.10:g.86955460G>A single nucleotide variant not provided [RCV001566332] Chr11:86955460 [GRCh38]
Chr11:86666502 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.286-247TTAT[3] microsatellite not provided [RCV001575104] Chr11:86952702..86952705 [GRCh38]
Chr11:86663744..86663747 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.777T>C (p.Ser259=) single nucleotide variant not provided [RCV000905691] Chr11:86951979 [GRCh38]
Chr11:86663021 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.700A>G (p.Thr234Ala) single nucleotide variant Retinal dystrophy [RCV001075663]|not provided [RCV001303672] Chr11:86952056 [GRCh38]
Chr11:86663098 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.534_580dup (p.Val194fs) duplication not provided [RCV001038525] Chr11:86952175..86952176 [GRCh38]
Chr11:86663217..86663218 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.241A>G (p.Thr81Ala) single nucleotide variant not provided [RCV001040621] Chr11:86954845 [GRCh38]
Chr11:86665887 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.457G>A (p.Asp153Asn) single nucleotide variant not provided [RCV001046957] Chr11:86952299 [GRCh38]
Chr11:86663341 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.461A>G (p.His154Arg) single nucleotide variant Exudative vitreoretinopathy 1 [RCV000985230] Chr11:86952295 [GRCh38]
Chr11:86663337 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3953G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114666] Chr11:86947189 [GRCh38]
Chr11:86658231 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2091A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114778] Chr11:86949051 [GRCh38]
Chr11:86660093 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1128G>T (p.Leu376Phe) single nucleotide variant not provided [RCV001061399] Chr11:86951628 [GRCh38]
Chr11:86662670 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*701C>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113483] Chr11:86950441 [GRCh38]
Chr11:86661483 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.18A>C (p.Ala6=) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001112060] Chr11:86955068 [GRCh38]
Chr11:86666110 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.-250G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001112061] Chr11:86955335 [GRCh38]
Chr11:86666377 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1057G>C (p.Ala353Pro) single nucleotide variant not provided [RCV001225752] Chr11:86951699 [GRCh38]
Chr11:86662741 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.149T>G (p.Ile50Ser) single nucleotide variant not provided [RCV001238889] Chr11:86954937 [GRCh38]
Chr11:86665979 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.9G>A (p.Trp3Ter) single nucleotide variant not provided [RCV001243334] Chr11:86955077 [GRCh38]
Chr11:86666119 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.811G>T (p.Val271Phe) single nucleotide variant not provided [RCV001227305] Chr11:86951945 [GRCh38]
Chr11:86662987 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1567G>C (p.Gly523Arg) single nucleotide variant Exudative vitreoretinopathy 1 [RCV002466634]|not provided [RCV001217472] Chr11:86951189 [GRCh38]
Chr11:86662231 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.661dup (p.Ile221fs) duplication not provided [RCV001237720] Chr11:86952094..86952095 [GRCh38]
Chr11:86663136..86663137 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.*2182G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114777] Chr11:86948960 [GRCh38]
Chr11:86660002 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1108G>A (p.Ala370Thr) single nucleotide variant not provided [RCV001229755] Chr11:86951648 [GRCh38]
Chr11:86662690 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*522C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114892] Chr11:86950620 [GRCh38]
Chr11:86661662 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3433T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111384] Chr11:86947709 [GRCh38]
Chr11:86658751 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3052C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111385] Chr11:86948090 [GRCh38]
Chr11:86659132 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1477A>G (p.Met493Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001198878]|not provided [RCV002560257] Chr11:86951279 [GRCh38]
Chr11:86662321 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.379C>T (p.Arg127Cys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111581]|not provided [RCV001209730] Chr11:86952377 [GRCh38]
Chr11:86663419 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.718A>G (p.Thr240Ala) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001196145] Chr11:86952038 [GRCh38]
Chr11:86663080 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*5256G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001108931] Chr11:86945886 [GRCh38]
Chr11:86656928 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3686C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109036] Chr11:86947456 [GRCh38]
Chr11:86658498 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2087C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109146] Chr11:86949055 [GRCh38]
Chr11:86660097 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2051G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109147] Chr11:86949091 [GRCh38]
Chr11:86660133 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.391G>A (p.Val131Ile) single nucleotide variant not provided [RCV001242742] Chr11:86952365 [GRCh38]
Chr11:86663407 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*312C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001114894] Chr11:86950830 [GRCh38]
Chr11:86661872 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*2960T>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113386] Chr11:86948182 [GRCh38]
Chr11:86659224 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.352G>A (p.Gly118Ser) single nucleotide variant not provided [RCV001213776] Chr11:86952404 [GRCh38]
Chr11:86663446 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.678G>A (p.Trp226Ter) single nucleotide variant not provided [RCV001209731] Chr11:86952078 [GRCh38]
Chr11:86663120 [GRCh37]
Chr11:11q14.2
pathogenic
GRCh37/hg19 11q14.2(chr11:86399065-87131796)x3 copy number gain not provided [RCV002473522] Chr11:86399065..87131796 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.614del (p.Gly205fs) deletion not provided [RCV001008536] Chr11:86952142 [GRCh38]
Chr11:86663184 [GRCh37]
Chr11:11q14.2
likely pathogenic
GRCh37/hg19 11q14.1-14.2(chr11:83530179-87059742)x1 copy number loss not provided [RCV001006422] Chr11:83530179..87059742 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_012193.4(FZD4):c.*1459A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111488] Chr11:86949683 [GRCh38]
Chr11:86660725 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1397A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111489] Chr11:86949745 [GRCh38]
Chr11:86660787 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*1252C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111490] Chr11:86949890 [GRCh38]
Chr11:86660932 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.84G>C (p.Leu28=) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111582]|not provided [RCV002069800] Chr11:86955002 [GRCh38]
Chr11:86666044 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*3639A>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109037] Chr11:86947503 [GRCh38]
Chr11:86658545 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*3618G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109038] Chr11:86947524 [GRCh38]
Chr11:86658566 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.380G>A (p.Arg127His) single nucleotide variant not provided [RCV001210801] Chr11:86952376 [GRCh38]
Chr11:86663418 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*3775C>T single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109035] Chr11:86947367 [GRCh38]
Chr11:86658409 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*128G>A single nucleotide variant Exudative vitreoretinopathy 1 [RCV001109248] Chr11:86951014 [GRCh38]
Chr11:86662056 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.*4756G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001111287] Chr11:86946386 [GRCh38]
Chr11:86657428 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-14.3(chr11:84830143-92029933)x3 copy number gain not provided [RCV001006426] Chr11:84830143..92029933 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
NM_012193.4(FZD4):c.617A>G (p.Tyr206Cys) single nucleotide variant not provided [RCV001063545] Chr11:86952139 [GRCh38]
Chr11:86663181 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1507_1508del (p.Thr503fs) microsatellite not provided [RCV001039319] Chr11:86951248..86951249 [GRCh38]
Chr11:86662290..86662291 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.511C>T (p.His171Tyr) single nucleotide variant not provided [RCV001206128] Chr11:86952245 [GRCh38]
Chr11:86663287 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.*798G>C single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113482] Chr11:86950344 [GRCh38]
Chr11:86661386 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.542G>A (p.Cys181Tyr) single nucleotide variant not provided [RCV001091740] Chr11:86952214 [GRCh38]
Chr11:86663256 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.559A>G (p.Asn187Asp) single nucleotide variant not provided [RCV001215040] Chr11:86952197 [GRCh38]
Chr11:86663239 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.76C>A (p.Gln26Lys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001112059]|not provided [RCV001037988] Chr11:86955010 [GRCh38]
Chr11:86666052 [GRCh37]
Chr11:11q14.2
benign|uncertain significance
NM_012193.4(FZD4):c.338C>G (p.Pro113Arg) single nucleotide variant not provided [RCV001038546] Chr11:86952418 [GRCh38]
Chr11:86663460 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.*4386T>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001113300] Chr11:86946756 [GRCh38]
Chr11:86657798 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.124_285+165del deletion not provided [RCV001203664] Chr11:86954636..86954962 [GRCh38]
Chr11:86665678..86666004 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.515A>G (p.Lys172Arg) single nucleotide variant not provided [RCV001230307] Chr11:86952241 [GRCh38]
Chr11:86663283 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1487G>A (p.Trp496Ter) single nucleotide variant not provided [RCV001038801] Chr11:86951269 [GRCh38]
Chr11:86662311 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.*5168C>G single nucleotide variant Exudative vitreoretinopathy 1 [RCV001108932] Chr11:86945974 [GRCh38]
Chr11:86657016 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.349T>C (p.Cys117Arg) single nucleotide variant Familial exudative vitreoretinopathy [RCV001003034] Chr11:86952407 [GRCh38]
Chr11:86663449 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.1474G>C (p.Gly492Arg) single nucleotide variant not provided [RCV001268102] Chr11:86951282 [GRCh38]
Chr11:86662324 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
NM_012193.4(FZD4):c.1382A>G (p.Asn461Ser) single nucleotide variant not provided [RCV001348583] Chr11:86951374 [GRCh38]
Chr11:86662416 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1468A>T (p.Thr490Ser) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001269471] Chr11:86951288 [GRCh38]
Chr11:86662330 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1594G>A (p.Gly532Ser) single nucleotide variant not provided [RCV001350919] Chr11:86951162 [GRCh38]
Chr11:86662204 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1443T>G (p.Ile481Met) single nucleotide variant not provided [RCV001350844] Chr11:86951313 [GRCh38]
Chr11:86662355 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1133A>G (p.Tyr378Cys) single nucleotide variant not provided [RCV001320653] Chr11:86951623 [GRCh38]
Chr11:86662665 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.359T>A (p.Met120Lys) single nucleotide variant not provided [RCV001320766] Chr11:86952397 [GRCh38]
Chr11:86663439 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.355G>A (p.Gly119Ser) single nucleotide variant not provided [RCV001295523] Chr11:86952401 [GRCh38]
Chr11:86663443 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1561_1562del (p.Lys521fs) deletion not provided [RCV001307183] Chr11:86951194..86951195 [GRCh38]
Chr11:86662236..86662237 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.834A>G (p.Glu278=) single nucleotide variant not provided [RCV001413253] Chr11:86951922 [GRCh38]
Chr11:86662964 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1149T>C (p.Asn383=) single nucleotide variant not provided [RCV001433975] Chr11:86951607 [GRCh38]
Chr11:86662649 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1523C>T (p.Ser508Phe) single nucleotide variant not provided [RCV001303955] Chr11:86951233 [GRCh38]
Chr11:86662275 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.674T>C (p.Val225Ala) single nucleotide variant not provided [RCV001351758] Chr11:86952082 [GRCh38]
Chr11:86663124 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.637C>T (p.Arg213Cys) single nucleotide variant not provided [RCV001346434] Chr11:86952119 [GRCh38]
Chr11:86663161 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.716T>C (p.Leu239Pro) single nucleotide variant not provided [RCV001297123] Chr11:86952040 [GRCh38]
Chr11:86663082 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.330C>G (p.Ile110Met) single nucleotide variant Inborn genetic diseases [RCV002547835]|not provided [RCV001365108] Chr11:86952426 [GRCh38]
Chr11:86663468 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1268A>G (p.Asp423Gly) single nucleotide variant not provided [RCV001371919] Chr11:86951488 [GRCh38]
Chr11:86662530 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.175_177del (p.Asn59del) deletion not provided [RCV001345035] Chr11:86954909..86954911 [GRCh38]
Chr11:86665951..86665953 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1302G>C (p.Met434Ile) single nucleotide variant not provided [RCV001306929] Chr11:86951454 [GRCh38]
Chr11:86662496 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.47G>A (p.Gly16Asp) single nucleotide variant not provided [RCV001361411] Chr11:86955039 [GRCh38]
Chr11:86666081 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1171G>A (p.Val391Met) single nucleotide variant not provided [RCV001324417] Chr11:86951585 [GRCh38]
Chr11:86662627 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.638G>A (p.Arg213His) single nucleotide variant not provided [RCV001295556] Chr11:86952118 [GRCh38]
Chr11:86663160 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1397G>A (p.Arg466Gln) single nucleotide variant not provided [RCV001343175] Chr11:86951359 [GRCh38]
Chr11:86662401 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1483A>G (p.Ile495Val) single nucleotide variant not provided [RCV001363869] Chr11:86951273 [GRCh38]
Chr11:86662315 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.69G>T (p.Leu23Phe) single nucleotide variant not provided [RCV001366176] Chr11:86955017 [GRCh38]
Chr11:86666059 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.550G>C (p.Val184Leu) single nucleotide variant not provided [RCV001315949] Chr11:86952206 [GRCh38]
Chr11:86663248 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1078A>G (p.Ile360Val) single nucleotide variant not provided [RCV001318005] Chr11:86951678 [GRCh38]
Chr11:86662720 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1392T>G (p.Leu464=) single nucleotide variant not provided [RCV001395969] Chr11:86951364 [GRCh38]
Chr11:86662406 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.32C>A (p.Pro11Gln) single nucleotide variant not provided [RCV001371113] Chr11:86955054 [GRCh38]
Chr11:86666096 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1202T>C (p.Ile401Thr) single nucleotide variant not provided [RCV001360409] Chr11:86951554 [GRCh38]
Chr11:86662596 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.758G>A (p.Arg253His) single nucleotide variant not provided [RCV001366843] Chr11:86951998 [GRCh38]
Chr11:86663040 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.615del (p.Tyr206fs) deletion Exudative vitreoretinopathy 1 [RCV001270178] Chr11:86952141 [GRCh38]
Chr11:86663183 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.81GCT[2] (p.Leu31del) microsatellite not provided [RCV001367933] Chr11:86954997..86954999 [GRCh38]
Chr11:86666039..86666041 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1322C>G (p.Ser441Ter) single nucleotide variant not provided [RCV001311265] Chr11:86951434 [GRCh38]
Chr11:86662476 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.524T>G (p.Ile175Ser) single nucleotide variant not provided [RCV001313137] Chr11:86952232 [GRCh38]
Chr11:86663274 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1590A>G (p.Gly530=) single nucleotide variant not provided [RCV001402579] Chr11:86951166 [GRCh38]
Chr11:86662208 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.168C>T (p.Leu56=) single nucleotide variant not provided [RCV001465954] Chr11:86954918 [GRCh38]
Chr11:86665960 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.351C>T (p.Cys117=) single nucleotide variant not provided [RCV001455370] Chr11:86952405 [GRCh38]
Chr11:86663447 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.750C>T (p.Tyr250=) single nucleotide variant not provided [RCV001466451] Chr11:86952006 [GRCh38]
Chr11:86663048 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.999C>G (p.Leu333=) single nucleotide variant not provided [RCV001482994] Chr11:86951757 [GRCh38]
Chr11:86662799 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.715C>T (p.Leu239=) single nucleotide variant not provided [RCV001466921] Chr11:86952041 [GRCh38]
Chr11:86663083 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1158C>T (p.Ala386=) single nucleotide variant not provided [RCV001488868] Chr11:86951598 [GRCh38]
Chr11:86662640 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1314G>A (p.Gly438=) single nucleotide variant not provided [RCV001427840] Chr11:86951442 [GRCh38]
Chr11:86662484 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1347G>A (p.Thr449=) single nucleotide variant not provided [RCV001449414] Chr11:86951409 [GRCh38]
Chr11:86662451 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.312A>C (p.Pro104=) single nucleotide variant not provided [RCV001425249] Chr11:86952444 [GRCh38]
Chr11:86663486 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1510_1528del (p.Trp504fs) deletion not provided [RCV001390550] Chr11:86951228..86951246 [GRCh38]
Chr11:86662270..86662288 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1167G>C (p.Gly389=) single nucleotide variant not provided [RCV001447490] Chr11:86951589 [GRCh38]
Chr11:86662631 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1494C>T (p.Ala498=) single nucleotide variant not provided [RCV001426725] Chr11:86951262 [GRCh38]
Chr11:86662304 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1152C>T (p.Leu384=) single nucleotide variant not provided [RCV001408485] Chr11:86951604 [GRCh38]
Chr11:86662646 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.348A>C (p.Pro116=) single nucleotide variant not provided [RCV001424083] Chr11:86952408 [GRCh38]
Chr11:86663450 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.286-164C>T single nucleotide variant not provided [RCV001593468] Chr11:86952634 [GRCh38]
Chr11:86663676 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.576C>T (p.Ile192=) single nucleotide variant not provided [RCV001516946] Chr11:86952180 [GRCh38]
Chr11:86663222 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.1329G>C (p.Leu443=) single nucleotide variant not provided [RCV001480352] Chr11:86951427 [GRCh38]
Chr11:86662469 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.546C>T (p.His182=) single nucleotide variant not provided [RCV001477599] Chr11:86952210 [GRCh38]
Chr11:86663252 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1506C>T (p.His502=) single nucleotide variant not provided [RCV001436062] Chr11:86951250 [GRCh38]
Chr11:86662292 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1170C>T (p.Phe390=) single nucleotide variant not provided [RCV001471147] Chr11:86951586 [GRCh38]
Chr11:86662628 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1453T>C (p.Leu485=) single nucleotide variant not provided [RCV001429468] Chr11:86951303 [GRCh38]
Chr11:86662345 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.252G>A (p.Pro84=) single nucleotide variant not provided [RCV001406646] Chr11:86954834 [GRCh38]
Chr11:86665876 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.118G>T (p.Glu40Ter) single nucleotide variant not provided [RCV001383417] Chr11:86954968 [GRCh38]
Chr11:86666010 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1551A>G (p.Val517=) single nucleotide variant not provided [RCV001521871] Chr11:86951205 [GRCh38]
Chr11:86662247 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.757C>T (p.Arg253Cys) single nucleotide variant not provided [RCV001379550] Chr11:86951999 [GRCh38]
Chr11:86663041 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.285+7G>A single nucleotide variant not provided [RCV001399104] Chr11:86954794 [GRCh38]
Chr11:86665836 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1130G>A (p.Cys377Tyr) single nucleotide variant not provided [RCV001767807] Chr11:86951626 [GRCh38]
Chr11:86662668 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.98C>A (p.Pro33Gln) single nucleotide variant not provided [RCV001758182] Chr11:86954988 [GRCh38]
Chr11:86666030 [GRCh37]
Chr11:11q14.2
conflicting interpretations of pathogenicity|uncertain significance
NM_012193.4(FZD4):c.1007G>A (p.Gly336Asp) single nucleotide variant Exudative vitreoretinopathy 1 [RCV001808841] Chr11:86951749 [GRCh38]
Chr11:86662791 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1092T>G (p.Ile364Met) single nucleotide variant not provided [RCV001944972] Chr11:86951664 [GRCh38]
Chr11:86662706 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1598G>A (p.Ser533Asn) single nucleotide variant not provided [RCV001896186] Chr11:86951158 [GRCh38]
Chr11:86662200 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.421G>C (p.Glu141Gln) single nucleotide variant Inborn genetic diseases [RCV002550355]|not provided [RCV001929901] Chr11:86952335 [GRCh38]
Chr11:86663377 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1490C>G (p.Ser497Cys) single nucleotide variant not provided [RCV002025935] Chr11:86951266 [GRCh38]
Chr11:86662308 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1268A>C (p.Asp423Ala) single nucleotide variant not provided [RCV001983338] Chr11:86951488 [GRCh38]
Chr11:86662530 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1375A>G (p.Ile459Val) single nucleotide variant not provided [RCV001891683] Chr11:86951381 [GRCh38]
Chr11:86662423 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.932T>G (p.Phe311Cys) single nucleotide variant not provided [RCV001947745] Chr11:86951824 [GRCh38]
Chr11:86662866 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.828C>T (p.Gly276=) single nucleotide variant not provided [RCV002044707] Chr11:86951928 [GRCh38]
Chr11:86662970 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1336G>C (p.Val446Leu) single nucleotide variant not provided [RCV001864017] Chr11:86951420 [GRCh38]
Chr11:86662462 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1263A>G (p.Gln421=) single nucleotide variant not provided [RCV001911909] Chr11:86951493 [GRCh38]
Chr11:86662535 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1552A>C (p.Lys518Gln) single nucleotide variant not provided [RCV001864218] Chr11:86951204 [GRCh38]
Chr11:86662246 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.863C>T (p.Ala288Val) single nucleotide variant not provided [RCV002045224] Chr11:86951893 [GRCh38]
Chr11:86662935 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.910A>G (p.Ile304Val) single nucleotide variant not provided [RCV002006741] Chr11:86951846 [GRCh38]
Chr11:86662888 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1244A>G (p.Lys415Arg) single nucleotide variant not provided [RCV002022501] Chr11:86951512 [GRCh38]
Chr11:86662554 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.286-14T>A single nucleotide variant not provided [RCV002021089] Chr11:86952484 [GRCh38]
Chr11:86663526 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1 copy number loss not provided [RCV001832892] Chr11:85422071..118022671 [GRCh37]
Chr11:11q14.1-23.3
uncertain significance
GRCh37/hg19 11q14.1-21(chr11:80318996-96116221) copy number loss not specified [RCV002052941] Chr11:80318996..96116221 [GRCh37]
Chr11:11q14.1-21
pathogenic
NM_012193.4(FZD4):c.633del (p.Leu210_Tyr211insTer) deletion not provided [RCV001949394] Chr11:86952123 [GRCh38]
Chr11:86663165 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.341T>C (p.Ile114Thr) single nucleotide variant not provided [RCV002006749] Chr11:86952415 [GRCh38]
Chr11:86663457 [GRCh37]
Chr11:11q14.2
pathogenic|likely pathogenic
GRCh37/hg19 11q14.1-21(chr11:84924674-93574799) copy number loss not specified [RCV002052942] Chr11:84924674..93574799 [GRCh37]
Chr11:11q14.1-21
likely pathogenic
NM_012193.4(FZD4):c.615C>G (p.Gly205=) single nucleotide variant not provided [RCV001965329] Chr11:86952141 [GRCh38]
Chr11:86663183 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-22.1(chr11:77855209-98002445) copy number loss not specified [RCV002052940] Chr11:77855209..98002445 [GRCh37]
Chr11:11q14.1-22.1
pathogenic
NM_012193.4(FZD4):c.114G>T (p.Gly38=) single nucleotide variant not provided [RCV001968198] Chr11:86954972 [GRCh38]
Chr11:86666014 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.845G>T (p.Cys282Phe) single nucleotide variant not provided [RCV002005234] Chr11:86951911 [GRCh38]
Chr11:86662953 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.35G>C (p.Gly12Ala) single nucleotide variant not provided [RCV002041394] Chr11:86955051 [GRCh38]
Chr11:86666093 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.325A>G (p.Lys109Glu) single nucleotide variant not provided [RCV001972980] Chr11:86952431 [GRCh38]
Chr11:86663473 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.890T>A (p.Leu297His) single nucleotide variant not provided [RCV001867452] Chr11:86951866 [GRCh38]
Chr11:86662908 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.496G>A (p.Glu166Lys) single nucleotide variant not provided [RCV001955918] Chr11:86952260 [GRCh38]
Chr11:86663302 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1340del (p.Pro447fs) deletion not provided [RCV001963020] Chr11:86951416 [GRCh38]
Chr11:86662458 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1222G>A (p.Ala408Thr) single nucleotide variant not provided [RCV002035206] Chr11:86951534 [GRCh38]
Chr11:86662576 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.546C>G (p.His182Gln) single nucleotide variant not provided [RCV001906462] Chr11:86952210 [GRCh38]
Chr11:86663252 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.115_129del (p.Asp39_Arg43del) deletion not provided [RCV001916353] Chr11:86954957..86954971 [GRCh38]
Chr11:86665999..86666013 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1205del (p.Gly402fs) deletion not provided [RCV001903042] Chr11:86951551 [GRCh38]
Chr11:86662593 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.347C>T (p.Pro116Leu) single nucleotide variant not provided [RCV001936342] Chr11:86952409 [GRCh38]
Chr11:86663451 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.126G>C (p.Glu42Asp) single nucleotide variant not provided [RCV002026864] Chr11:86954960 [GRCh38]
Chr11:86666002 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.113_114delinsTC (p.Gly38Val) indel not provided [RCV001916731] Chr11:86954972..86954973 [GRCh38]
Chr11:86666014..86666015 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.241A>T (p.Thr81Ser) single nucleotide variant not provided [RCV001931585] Chr11:86954845 [GRCh38]
Chr11:86665887 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1010A>G (p.His337Arg) single nucleotide variant not provided [RCV001991663] Chr11:86951746 [GRCh38]
Chr11:86662788 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1552_1555del (p.Lys518fs) deletion not provided [RCV001973523] Chr11:86951201..86951204 [GRCh38]
Chr11:86662243..86662246 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.557C>A (p.Thr186Asn) single nucleotide variant not provided [RCV002015966] Chr11:86952199 [GRCh38]
Chr11:86663241 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1079T>A (p.Ile360Asn) single nucleotide variant not provided [RCV002010041] Chr11:86951677 [GRCh38]
Chr11:86662719 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.823G>A (p.Val275Ile) single nucleotide variant not provided [RCV002028008] Chr11:86951933 [GRCh38]
Chr11:86662975 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1380dup (p.Asn461fs) duplication not provided [RCV001919038] Chr11:86951375..86951376 [GRCh38]
Chr11:86662417..86662418 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1346C>T (p.Thr449Met) single nucleotide variant not provided [RCV001976682] Chr11:86951410 [GRCh38]
Chr11:86662452 [GRCh37]
Chr11:11q14.2
likely benign|uncertain significance
NM_012193.4(FZD4):c.1136T>C (p.Val379Ala) single nucleotide variant not provided [RCV001980636] Chr11:86951620 [GRCh38]
Chr11:86662662 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.814A>G (p.Arg272Gly) single nucleotide variant not provided [RCV002018871] Chr11:86951942 [GRCh38]
Chr11:86662984 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.473G>A (p.Cys158Tyr) single nucleotide variant not provided [RCV002015347] Chr11:86952283 [GRCh38]
Chr11:86663325 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.143T>A (p.Ile48Asn) single nucleotide variant not provided [RCV002031021] Chr11:86954943 [GRCh38]
Chr11:86665985 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1274C>A (p.Thr425Lys) single nucleotide variant not provided [RCV002019541] Chr11:86951482 [GRCh38]
Chr11:86662524 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1362T>A (p.Cys454Ter) single nucleotide variant not provided [RCV001907069] Chr11:86951394 [GRCh38]
Chr11:86662436 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.50T>C (p.Val17Ala) single nucleotide variant Familial exudative vitreoretinopathy [RCV003483851]|not provided [RCV001875329] Chr11:86955036 [GRCh38]
Chr11:86666078 [GRCh37]
Chr11:11q14.2
uncertain significance|not provided
NM_012193.4(FZD4):c.244T>C (p.Phe82Leu) single nucleotide variant not provided [RCV001980921] Chr11:86954842 [GRCh38]
Chr11:86665884 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.874C>G (p.Leu292Val) single nucleotide variant not provided [RCV002046250] Chr11:86951882 [GRCh38]
Chr11:86662924 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.680C>T (p.Ala227Val) single nucleotide variant not provided [RCV001940464] Chr11:86952076 [GRCh38]
Chr11:86663118 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.662T>C (p.Ile221Thr) single nucleotide variant not provided [RCV001918613] Chr11:86952094 [GRCh38]
Chr11:86663136 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.631T>C (p.Tyr211His) single nucleotide variant not provided [RCV001937676] Chr11:86952125 [GRCh38]
Chr11:86663167 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1178C>T (p.Ala393Val) single nucleotide variant not provided [RCV001916242] Chr11:86951578 [GRCh38]
Chr11:86662620 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1083C>A (p.Val361=) single nucleotide variant not provided [RCV002110424] Chr11:86951673 [GRCh38]
Chr11:86662715 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.447A>G (p.Pro149=) single nucleotide variant not provided [RCV002090687] Chr11:86952309 [GRCh38]
Chr11:86663351 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.72C>T (p.Leu24=) single nucleotide variant not provided [RCV002168618] Chr11:86955014 [GRCh38]
Chr11:86666056 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.285+11C>T single nucleotide variant not provided [RCV002092194] Chr11:86954790 [GRCh38]
Chr11:86665832 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.235C>T (p.Leu79=) single nucleotide variant not provided [RCV002189349] Chr11:86954851 [GRCh38]
Chr11:86665893 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1404T>C (p.Ser468=) single nucleotide variant not provided [RCV002128177] Chr11:86951352 [GRCh38]
Chr11:86662394 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.285+18dup duplication not provided [RCV002197412] Chr11:86954782..86954783 [GRCh38]
Chr11:86665824..86665825 [GRCh37]
Chr11:11q14.2
benign
NM_012193.4(FZD4):c.291C>T (p.Phe97=) single nucleotide variant not provided [RCV002168936] Chr11:86952465 [GRCh38]
Chr11:86663507 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1221T>C (p.Ala407=) single nucleotide variant not provided [RCV002126225] Chr11:86951535 [GRCh38]
Chr11:86662577 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.211C>T (p.Leu71=) single nucleotide variant not provided [RCV002077596] Chr11:86954875 [GRCh38]
Chr11:86665917 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.273C>T (p.Ser91=) single nucleotide variant not provided [RCV002215225] Chr11:86954813 [GRCh38]
Chr11:86665855 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.870T>G (p.Pro290=) single nucleotide variant not provided [RCV002170852] Chr11:86951886 [GRCh38]
Chr11:86662928 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.903A>T (p.Gly301=) single nucleotide variant not provided [RCV002151290] Chr11:86951853 [GRCh38]
Chr11:86662895 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.582G>A (p.Val194=) single nucleotide variant not provided [RCV002085145] Chr11:86952174 [GRCh38]
Chr11:86663216 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.285+14C>T single nucleotide variant not provided [RCV002140706] Chr11:86954787 [GRCh38]
Chr11:86665829 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1395T>C (p.Phe465=) single nucleotide variant not provided [RCV002177374] Chr11:86951361 [GRCh38]
Chr11:86662403 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1509G>A (p.Thr503=) single nucleotide variant not provided [RCV002178049] Chr11:86951247 [GRCh38]
Chr11:86662289 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1413T>C (p.Asp471=) single nucleotide variant not provided [RCV002177577] Chr11:86951343 [GRCh38]
Chr11:86662385 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.939A>G (p.Gly313=) single nucleotide variant not provided [RCV002103615] Chr11:86951817 [GRCh38]
Chr11:86662859 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.990A>G (p.Ala330=) single nucleotide variant not provided [RCV002121067] Chr11:86951766 [GRCh38]
Chr11:86662808 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.597C>T (p.Asn199=) single nucleotide variant not provided [RCV002155845] Chr11:86952159 [GRCh38]
Chr11:86663201 [GRCh37]
Chr11:11q14.2
likely benign
NC_000011.9:g.(?_86662184)_(86666127_?)del deletion not provided [RCV003116565] Chr11:86662184..86666127 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1029C>T (p.His343=) single nucleotide variant not provided [RCV003118133] Chr11:86951727 [GRCh38]
Chr11:86662769 [GRCh37]
Chr11:11q14.2
likely benign
NC_000011.9:g.(?_85339652)_(86666127_?)del deletion not provided [RCV003122860] Chr11:85339652..86666127 [GRCh37]
Chr11:11q14.1-14.2
pathogenic
NM_012193.4(FZD4):c.1216A>G (p.Ile406Val) single nucleotide variant not provided [RCV002296977] Chr11:86951540 [GRCh38]
Chr11:86662582 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.203G>T (p.Gly68Val) single nucleotide variant Exudative vitreoretinopathy 1 [RCV002283643] Chr11:86954883 [GRCh38]
Chr11:86665925 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1273del (p.Thr425fs) deletion Exudative vitreoretinopathy 1 [RCV002285090] Chr11:86951483 [GRCh38]
Chr11:86662525 [GRCh37]
Chr11:11q14.2
pathogenic
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
GRCh37/hg19 11q14.1-14.3(chr11:80562738-88663067)x1 copy number loss not provided [RCV002474501] Chr11:80562738..88663067 [GRCh37]
Chr11:11q14.1-14.3
pathogenic
NM_012193.4(FZD4):c.244_245delinsG (p.Phe82fs) indel Exudative vitreoretinopathy 1 [RCV002471504] Chr11:86954841..86954842 [GRCh38]
Chr11:86665883..86665884 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.173A>G (p.Tyr58Cys) single nucleotide variant Exudative vitreoretinopathy 1 [RCV002470362] Chr11:86954913 [GRCh38]
Chr11:86665955 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.874C>A (p.Leu292Ile) single nucleotide variant not provided [RCV002304283] Chr11:86951882 [GRCh38]
Chr11:86662924 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.35G>T (p.Gly12Val) single nucleotide variant not provided [RCV002304386] Chr11:86955051 [GRCh38]
Chr11:86666093 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1535T>C (p.Val512Ala) single nucleotide variant not provided [RCV002305221] Chr11:86951221 [GRCh38]
Chr11:86662263 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.508C>T (p.Pro170Ser) single nucleotide variant not provided [RCV002296324] Chr11:86952248 [GRCh38]
Chr11:86663290 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1166G>T (p.Gly389Val) single nucleotide variant not provided [RCV002295876] Chr11:86951590 [GRCh38]
Chr11:86662632 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.418C>T (p.Pro140Ser) single nucleotide variant not provided [RCV002302147] Chr11:86952338 [GRCh38]
Chr11:86663380 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1073A>G (p.Lys358Arg) single nucleotide variant not provided [RCV002303193] Chr11:86951683 [GRCh38]
Chr11:86662725 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.656C>G (p.Thr219Ser) single nucleotide variant not provided [RCV002299513] Chr11:86952100 [GRCh38]
Chr11:86663142 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.947G>C (p.Ser316Thr) single nucleotide variant not provided [RCV003014923] Chr11:86951809 [GRCh38]
Chr11:86662851 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.42_51dup (p.Gly18fs) duplication not provided [RCV002881580] Chr11:86955034..86955035 [GRCh38]
Chr11:86666076..86666077 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.696C>T (p.Ile232=) single nucleotide variant not provided [RCV002775276] Chr11:86952060 [GRCh38]
Chr11:86663102 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.729C>G (p.Ile243Met) single nucleotide variant Inborn genetic diseases [RCV002859510] Chr11:86952027 [GRCh38]
Chr11:86663069 [GRCh37]
Chr11:11q14.2
uncertain significance
GRCh37/hg19 11q14.1-22.3(chr11:81478509-104667040)x1 copy number loss not provided [RCV002475722] Chr11:81478509..104667040 [GRCh37]
Chr11:11q14.1-22.3
pathogenic
NM_012193.4(FZD4):c.1315del (p.Val439fs) deletion not provided [RCV002511714] Chr11:86951441 [GRCh38]
Chr11:86662483 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.699C>G (p.Ser233=) single nucleotide variant not provided [RCV003017180] Chr11:86952057 [GRCh38]
Chr11:86663099 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.285+18C>G single nucleotide variant not provided [RCV002991850] Chr11:86954783 [GRCh38]
Chr11:86665825 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.32C>T (p.Pro11Leu) single nucleotide variant not provided [RCV002615367] Chr11:86955054 [GRCh38]
Chr11:86666096 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1420A>G (p.Met474Val) single nucleotide variant Inborn genetic diseases [RCV002818470] Chr11:86951336 [GRCh38]
Chr11:86662378 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1173G>A (p.Val391=) single nucleotide variant not provided [RCV002857980] Chr11:86951583 [GRCh38]
Chr11:86662625 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.827del (p.Gly276fs) deletion not provided [RCV002839440] Chr11:86951929 [GRCh38]
Chr11:86662971 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.530C>G (p.Pro177Arg) single nucleotide variant not provided [RCV002842758] Chr11:86952226 [GRCh38]
Chr11:86663268 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.306T>C (p.Tyr102=) single nucleotide variant not provided [RCV003011898] Chr11:86952450 [GRCh38]
Chr11:86663492 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.128G>A (p.Arg43Gln) single nucleotide variant not provided [RCV002948697] Chr11:86954958 [GRCh38]
Chr11:86666000 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.285+13A>C single nucleotide variant not provided [RCV003018872] Chr11:86954788 [GRCh38]
Chr11:86665830 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.836G>A (p.Arg279Lys) single nucleotide variant not provided [RCV003055734] Chr11:86951920 [GRCh38]
Chr11:86662962 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.225C>T (p.Ala75=) single nucleotide variant not provided [RCV002636392] Chr11:86954861 [GRCh38]
Chr11:86665903 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.607A>T (p.Lys203Ter) single nucleotide variant not provided [RCV002821059] Chr11:86952149 [GRCh38]
Chr11:86663191 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.835A>G (p.Arg279Gly) single nucleotide variant not provided [RCV002658849] Chr11:86951921 [GRCh38]
Chr11:86662963 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.852dup (p.Glu285Ter) duplication not provided [RCV002824028] Chr11:86951903..86951904 [GRCh38]
Chr11:86662945..86662946 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1455G>T (p.Leu485Phe) single nucleotide variant not provided [RCV002760273] Chr11:86951301 [GRCh38]
Chr11:86662343 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.55C>T (p.Leu19Phe) single nucleotide variant not provided [RCV002796249] Chr11:86955031 [GRCh38]
Chr11:86666073 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.199G>A (p.Val67Ile) single nucleotide variant not provided [RCV002695804] Chr11:86954887 [GRCh38]
Chr11:86665929 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1188_1192del (p.Phe396fs) deletion not provided [RCV003100644] Chr11:86951564..86951568 [GRCh38]
Chr11:86662606..86662610 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1502_1503del (p.Leu501fs) deletion not provided [RCV002870947] Chr11:86951253..86951254 [GRCh38]
Chr11:86662295..86662296 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.599G>A (p.Cys200Tyr) single nucleotide variant not provided [RCV003036888] Chr11:86952157 [GRCh38]
Chr11:86663199 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.865G>C (p.Glu289Gln) single nucleotide variant not provided [RCV003038022] Chr11:86951891 [GRCh38]
Chr11:86662933 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1077C>A (p.Thr359=) single nucleotide variant not provided [RCV003038453] Chr11:86951679 [GRCh38]
Chr11:86662721 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.113G>T (p.Gly38Val) single nucleotide variant Inborn genetic diseases [RCV002930474] Chr11:86954973 [GRCh38]
Chr11:86666015 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.847G>A (p.Asp283Asn) single nucleotide variant not provided [RCV003007759] Chr11:86951909 [GRCh38]
Chr11:86662951 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.8G>A (p.Trp3Ter) single nucleotide variant not provided [RCV003041097] Chr11:86955078 [GRCh38]
Chr11:86666120 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.159C>G (p.Cys53Trp) single nucleotide variant not provided [RCV002871960] Chr11:86954927 [GRCh38]
Chr11:86665969 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.362_366del (p.Cys121fs) deletion not provided [RCV002871786] Chr11:86952390..86952394 [GRCh38]
Chr11:86663432..86663436 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1236C>G (p.Ala412=) single nucleotide variant not provided [RCV002801592] Chr11:86951520 [GRCh38]
Chr11:86662562 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.107G>A (p.Gly36Asp) single nucleotide variant not provided [RCV003058345] Chr11:86954979 [GRCh38]
Chr11:86666021 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1390C>T (p.Leu464Phe) single nucleotide variant not provided [RCV002958807] Chr11:86951366 [GRCh38]
Chr11:86662408 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.340A>G (p.Ile114Val) single nucleotide variant not provided [RCV002851805] Chr11:86952416 [GRCh38]
Chr11:86663458 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.830G>A (p.Arg277Gln) single nucleotide variant not provided [RCV002958033] Chr11:86951926 [GRCh38]
Chr11:86662968 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.382T>C (p.Cys128Arg) single nucleotide variant not provided [RCV003084890] Chr11:86952374 [GRCh38]
Chr11:86663416 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.119A>C (p.Glu40Ala) single nucleotide variant not provided [RCV002594402] Chr11:86954967 [GRCh38]
Chr11:86666009 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.638G>T (p.Arg213Leu) single nucleotide variant not provided [RCV002631691] Chr11:86952118 [GRCh38]
Chr11:86663160 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.194A>G (p.Asn65Ser) single nucleotide variant not provided [RCV002598125] Chr11:86954892 [GRCh38]
Chr11:86665934 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1113T>C (p.Asp371=) single nucleotide variant not provided [RCV003048188] Chr11:86951643 [GRCh38]
Chr11:86662685 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.84G>A (p.Leu28=) single nucleotide variant not provided [RCV002857724] Chr11:86955002 [GRCh38]
Chr11:86666044 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1505A>C (p.His502Pro) single nucleotide variant not provided [RCV002716403] Chr11:86951251 [GRCh38]
Chr11:86662293 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.182C>T (p.Thr61Ile) single nucleotide variant not provided [RCV003087392] Chr11:86954904 [GRCh38]
Chr11:86665946 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.1164C>T (p.Thr388=) single nucleotide variant not provided [RCV002649672] Chr11:86951592 [GRCh38]
Chr11:86662634 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.469A>T (p.Met157Leu) single nucleotide variant not provided [RCV003028305] Chr11:86952287 [GRCh38]
Chr11:86663329 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.177C>A (p.Asn59Lys) single nucleotide variant not provided [RCV002630334] Chr11:86954909 [GRCh38]
Chr11:86665951 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1074A>C (p.Lys358Asn) single nucleotide variant not provided [RCV003045852] Chr11:86951682 [GRCh38]
Chr11:86662724 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.904T>A (p.Cys302Ser) single nucleotide variant not provided [RCV002856398] Chr11:86951852 [GRCh38]
Chr11:86662894 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.957del (p.Trp319fs) deletion not provided [RCV003062437] Chr11:86951799 [GRCh38]
Chr11:86662841 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.456C>G (p.Asn152Lys) single nucleotide variant not provided [RCV003062438] Chr11:86952300 [GRCh38]
Chr11:86663342 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.73C>G (p.Leu25Val) single nucleotide variant not provided [RCV002963317] Chr11:86955013 [GRCh38]
Chr11:86666055 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.223G>A (p.Ala75Thr) single nucleotide variant not provided [RCV003062439] Chr11:86954863 [GRCh38]
Chr11:86665905 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1485T>C (p.Ile495=) single nucleotide variant not provided [RCV003049633] Chr11:86951271 [GRCh38]
Chr11:86662313 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1249C>T (p.Arg417Trp) single nucleotide variant not provided [RCV002725933] Chr11:86951507 [GRCh38]
Chr11:86662549 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1302G>A (p.Met434Ile) single nucleotide variant not provided [RCV002635131] Chr11:86951454 [GRCh38]
Chr11:86662496 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1539T>C (p.Asn513=) single nucleotide variant not provided [RCV002653059] Chr11:86951217 [GRCh38]
Chr11:86662259 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.521C>T (p.Pro174Leu) single nucleotide variant not provided [RCV002653642] Chr11:86952235 [GRCh38]
Chr11:86663277 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.456C>T (p.Asn152=) single nucleotide variant not provided [RCV002654515] Chr11:86952300 [GRCh38]
Chr11:86663342 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.685C>T (p.Leu229=) single nucleotide variant not provided [RCV002652978] Chr11:86952071 [GRCh38]
Chr11:86663113 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.90C>T (p.Leu30=) single nucleotide variant not provided [RCV002634445] Chr11:86954996 [GRCh38]
Chr11:86666038 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1579G>T (p.Val527Leu) single nucleotide variant not provided [RCV002588293] Chr11:86951177 [GRCh38]
Chr11:86662219 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1065C>T (p.Pro355=) single nucleotide variant not provided [RCV002609007] Chr11:86951691 [GRCh38]
Chr11:86662733 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.154A>G (p.Met52Val) single nucleotide variant not provided [RCV002943659] Chr11:86954932 [GRCh38]
Chr11:86665974 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.176A>G (p.Asn59Ser) single nucleotide variant not provided [RCV002589238] Chr11:86954910 [GRCh38]
Chr11:86665952 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1030A>G (p.Ser344Gly) single nucleotide variant not provided [RCV002725898] Chr11:86951726 [GRCh38]
Chr11:86662768 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.571T>C (p.Tyr191His) single nucleotide variant not provided [RCV003154401] Chr11:86952185 [GRCh38]
Chr11:86663227 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.809T>G (p.Ile270Ser) single nucleotide variant Inborn genetic diseases [RCV003218468] Chr11:86951947 [GRCh38]
Chr11:86662989 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.820A>C (p.Thr274Pro) single nucleotide variant Inborn genetic diseases [RCV003209265] Chr11:86951936 [GRCh38]
Chr11:86662978 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1475G>A (p.Gly492Asp) single nucleotide variant Exudative vitreoretinopathy 1 [RCV003143434] Chr11:86951281 [GRCh38]
Chr11:86662323 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.197T>A (p.Leu66Gln) single nucleotide variant Inborn genetic diseases [RCV003349602] Chr11:86954889 [GRCh38]
Chr11:86665931 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1505A>G (p.His502Arg) single nucleotide variant not provided [RCV003395989] Chr11:86951251 [GRCh38]
Chr11:86662293 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1499C>G (p.Thr500Ser) single nucleotide variant not provided [RCV003569797] Chr11:86951257 [GRCh38]
Chr11:86662299 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.360del (p.Met120fs) deletion not provided [RCV003570106] Chr11:86952396 [GRCh38]
Chr11:86663438 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.475A>C (p.Met159Leu) single nucleotide variant not provided [RCV003875434] Chr11:86952281 [GRCh38]
Chr11:86663323 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.341T>A (p.Ile114Asn) single nucleotide variant not provided [RCV003456786] Chr11:86952415 [GRCh38]
Chr11:86663457 [GRCh37]
Chr11:11q14.2
likely pathogenic
NM_012193.4(FZD4):c.57C>T (p.Leu19=) single nucleotide variant not provided [RCV003688090] Chr11:86955029 [GRCh38]
Chr11:86666071 [GRCh37]
Chr11:11q14.2
likely benign
NM_012193.4(FZD4):c.1489T>C (p.Ser497Pro) single nucleotide variant not provided [RCV003574465] Chr11:86951267 [GRCh38]
Chr11:86662309 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.1497_1498del (p.Lys499fs) deletion not provided [RCV003572255] Chr11:86951258..86951259 [GRCh38]
Chr11:86662300..86662301 [GRCh37]
Chr11:11q14.2
pathogenic
NM_012193.4(FZD4):c.473G>T (p.Cys158Phe) single nucleotide variant not provided [RCV003687826] Chr11:86952283 [GRCh38]
Chr11:86663325 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.941T>C (p.Met314Thr) single nucleotide variant not provided [RCV003574082] Chr11:86951815 [GRCh38]
Chr11:86662857 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.683G>T (p.Ser228Ile) single nucleotide variant not provided [RCV003688621] Chr11:86952073 [GRCh38]
Chr11:86663115 [GRCh37]
Chr11:11q14.2
uncertain significance
NM_012193.4(FZD4):c.683G>C (p.Ser228Thr) single nucleotide variant not provided [RCV003662246] Chr11:86952073 [GRCh38]
Chr11:86663115 [GRCh37]
Chr11:11q14.2
uncertain significance
miRNA Target Status

Confirmed Target Of
miRNA GeneMature miRNAMethod NameResult TypeData TypeSupport TypePMID
MIR493hsa-miR-493-3pOncomiRDBexternal_infoNANA22057916

Predicted Target Of
Summary Value
Count of predictions:3044
Count of miRNA genes:1192
Interacting mature miRNAs:1553
Transcripts:ENST00000531380
Prediction methods:Miranda, Targetscan
Result types:miRGate_prediction

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

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

Markers in Region
D11S896  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,667,673 - 86,667,847UniSTSGRCh37
Build 361186,345,321 - 86,345,495RGDNCBI36
Celera1183,979,026 - 83,979,200RGD
Cytogenetic Map11q14.2UniSTS
HuRef1182,956,496 - 82,956,670UniSTS
Marshfield Genetic Map1189.69UniSTS
Marshfield Genetic Map1189.69RGD
deCODE Assembly Map1191.14UniSTS
RH91382  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,656,843 - 86,656,992UniSTSGRCh37
Build 361186,334,491 - 86,334,640RGDNCBI36
Celera1183,968,196 - 83,968,345RGD
Cytogenetic Map11q14.2UniSTS
HuRef1182,945,912 - 82,946,061UniSTS
GeneMap99-GB4 RH Map11301.88UniSTS
FZD4  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,661,682 - 86,661,777UniSTSGRCh37
Build 361186,339,330 - 86,339,425RGDNCBI36
Celera1183,973,035 - 83,973,130RGD
HuRef1182,950,747 - 82,950,842UniSTS
RH48350  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,659,785 - 86,659,904UniSTSGRCh37
Build 361186,337,433 - 86,337,552RGDNCBI36
Celera1183,971,138 - 83,971,257RGD
Cytogenetic Map11q14.2UniSTS
HuRef1182,948,850 - 82,948,969UniSTS
GeneMap99-GB4 RH Map11301.88UniSTS
NCBI RH Map11756.4UniSTS
FZD4_7916  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,661,675 - 86,662,513UniSTSGRCh37
Build 361186,339,323 - 86,340,161RGDNCBI36
Celera1183,973,028 - 83,973,866RGD
HuRef1182,950,740 - 82,951,578UniSTS
G20766  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,656,822 - 86,656,934UniSTSGRCh37
Build 361186,334,470 - 86,334,582RGDNCBI36
Celera1183,968,175 - 83,968,287RGD
Cytogenetic Map11q14.2UniSTS
HuRef1182,945,891 - 82,946,003UniSTS
A006F30  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,656,822 - 86,656,934UniSTSGRCh37
Build 361186,334,470 - 86,334,582RGDNCBI36
Celera1183,968,175 - 83,968,287RGD
Cytogenetic Map11q14.2UniSTS
HuRef1182,945,891 - 82,946,003UniSTS
GeneMap99-GB4 RH Map11301.88UniSTS
NCBI RH Map11754.4UniSTS
STS-R26141  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371186,663,627 - 86,663,790UniSTSGRCh37
Build 361186,341,275 - 86,341,438RGDNCBI36
Celera1183,974,980 - 83,975,143RGD
Cytogenetic Map11q14.2UniSTS
HuRef1182,952,692 - 82,952,855UniSTS
GeneMap99-GB4 RH Map11301.88UniSTS
NCBI RH Map11754.4UniSTS
D11S3114  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map7q31.1UniSTS
Cytogenetic Map7q21.11UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map3q22-q24UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map17q11UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map17p12-p11.2UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map3q27.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map15q11.2-q21.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map8q24.13UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map2q12.1UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map22q12.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map10q11.1UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map1q23.1UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map20q11.21UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q21.3UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6q27UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map5q23.1UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q21.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map16q12.1UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXq13.2UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map12p13.1UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map10q22.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map12p12.2-p11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map11p15.3UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map6q22.31UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map3q22.3UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map15q14UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map10q11.1-q24UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map10p15.1UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map14q31.1UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map15q22UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic MapXq12-q13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map7q31.1-q31.3UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic MapXq13.1-q21.1UniSTS
Cytogenetic Map20pter-q12UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map20q11.22-q11.23UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map1q21.2-q21.3UniSTS
Cytogenetic Map9p24.1UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map12q23-q24.1UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map9p23UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q37.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map1p21.2UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map2q24.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map1q31-q32UniSTS
Cytogenetic Map6q24.1UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map10q26.11UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map12q24.33UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map2q24.2UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map3p26.1-p25.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q24-q25UniSTS
Cytogenetic Map5q12.1UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map6p12UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic Map19qUniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map22q12.3-q13.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map3p21.1-p14.3UniSTS
Cytogenetic Map6p12.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map9q21.11UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map1q24.2UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map7q35UniSTS
Cytogenetic Map5p13.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map4q21UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map8q21.11UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map4p12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map21q11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map19q11UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map1q42.13UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map3q25.1UniSTS
Cytogenetic Map1p22.2UniSTS
Cytogenetic Map1p32.2-p32.1UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map7q36UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map11q22UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map1p33-p32UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map3q13.13-q13.2UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map4q32UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map19p13.13UniSTS
Cytogenetic Map4q13.2UniSTS
Cytogenetic Map4q31.23UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map14q24.2UniSTS
D10S16   No map positions available.
D15S1477  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map4q32-q35UniSTS
Cytogenetic Map5q11UniSTS
Cytogenetic Map10p12.1UniSTS
Cytogenetic Map10p12.1-p11.2UniSTS
Cytogenetic Map15q13UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map3p24.3UniSTS
Cytogenetic Map5q14UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map7p21.3UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map14q31-q32UniSTS
Cytogenetic Map10q25.2UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map3q12.3UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map5q23.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map4q21.1UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map20q13.31UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map10q24.2UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map2p13.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map6q16.2UniSTS
Cytogenetic Map2q14UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map7q21.2UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map8q22.3UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map5q23UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map13q12.1UniSTS
Cytogenetic Map6p21.32UniSTS
Cytogenetic Map2q31UniSTS
Cytogenetic Map10p14UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map3p21.2UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map14q12UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map22q12.3UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map11p13UniSTS
Cytogenetic Map12q13.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map4p14UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map19pUniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8q11.21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map10q23.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map9q34.13UniSTS
Cytogenetic Map1q32UniSTS
Cytogenetic Map1q31.3UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map9p13UniSTS
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map6q25.2-q25.3UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map9q34.2UniSTS
Cytogenetic Map17q24UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map19q13.3-q13.4UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map20q13UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map17q22-q23UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map16q12.2UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map3p25-p24UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic MapXq22.1UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map3p12UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic MapXp11.2UniSTS
Cytogenetic Map11q13.1-q13.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map7q21-q22UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map3q26.2UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map10q23.31UniSTS
Cytogenetic Map6p21.1-p12.2UniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map1p35UniSTS
Cytogenetic Map12qUniSTS
Cytogenetic Map1q21.2UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map14q11.1UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map19p13.3-p13.2UniSTS
Cytogenetic Map1p36.11-p34.2UniSTS
Cytogenetic Map9p22UniSTS
Cytogenetic Map1q42.12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p22.1UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map8q22.1UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic Map20p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map18q12.1UniSTS
Cytogenetic Map8q12.1UniSTS
Cytogenetic Map14q21.2UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic MapXp11.22UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map15q15.3UniSTS
Cytogenetic Map18q12.3UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map12q11-q12UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2p24UniSTS
Cytogenetic Map8q24.21UniSTS
Cytogenetic Map12q22-q23.1UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map15q21-q22UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map10q23UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map10q24UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map7p14-p13UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map6q22-q23UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map1q21.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map16p12.1UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map11q13.1-q13.3UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map10q25UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map15q21-q23UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map14q23.1UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p34UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map11q12UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map5q35UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map17q21.2UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map10q24.31UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map4q31.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map11q21UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map11q23.2UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map12q24.11UniSTS
Cytogenetic Map9q21.12UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q22.3UniSTS
Cytogenetic Map20p11.22-p11.1UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map16q23.1UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map6p24.1UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map6q15UniSTS
Cytogenetic Map5q35.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q11.2-q13.2UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic MapXq13.3UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map4q21.21UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q34UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q21UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7q22-q31UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map12q14UniSTS
Cytogenetic Map11q23.1-q23.2UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map17qUniSTS
Cytogenetic Map2q33UniSTS
Cytogenetic Map7qUniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map5q21.3UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic Map6p24.2UniSTS
L18426  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map18q12.1-q21.1UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map5q31.3UniSTS
Cytogenetic Map20q13.1UniSTS
Cytogenetic Map14q21UniSTS
Cytogenetic Map6p21.33UniSTS
Cytogenetic Map10p11UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map14q21.3UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map10p13UniSTS
Cytogenetic Map3q13.31UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map1p22.1UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19p13.1-p12UniSTS
Cytogenetic Map18p11.31-p11.21UniSTS
Cytogenetic Map2p23.1UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map6q25.3UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map11q14UniSTS
Cytogenetic Map9q21.32UniSTS
Cytogenetic Map1p34-p33UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map17q21.1UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map2q12.3UniSTS
Cytogenetic Map20q11.2-q13.2UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map8p23-p22UniSTS
Cytogenetic Map13q32.3UniSTS
Cytogenetic Map17q21-q22UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map5p13UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map12q21.1UniSTS
Cytogenetic Map3q26.32UniSTS
Cytogenetic Map13q11UniSTS
Cytogenetic Map1p35.3UniSTS
Cytogenetic Map7p12.3UniSTS
Cytogenetic Map17p12UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic MapXp22UniSTS
Cytogenetic Map21q22.3UniSTS
Cytogenetic Map17q11.2-q12UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map2p25UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map8p11.22UniSTS
Cytogenetic Map7p22UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic Map1p21.3UniSTS
Cytogenetic Map19q13.13UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map20q13.3UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map6p22.3-p22.1UniSTS
Cytogenetic Map1p35-p34.3UniSTS
Cytogenetic Map5q35.1UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map12p13.3UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map2q11.2UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic MapXp11UniSTS
Cytogenetic Map19q13UniSTS
Cytogenetic Map2q32.3UniSTS
Cytogenetic Map4q22.1-q23UniSTS
Cytogenetic Map1q22UniSTS
Cytogenetic Map17q22-q23.2UniSTS
Cytogenetic Map17q22UniSTS
Cytogenetic Map18q22.3UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map12q24.1-q24.3UniSTS
Cytogenetic Map11p11.2UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic MapXq22.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map17q21.32UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map9p24.2UniSTS
Cytogenetic Map14q32.11UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map15q23UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map3p22.1UniSTS
Cytogenetic Map19q13.33UniSTS
Cytogenetic Map3p14.3UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map1p31.3UniSTS
Cytogenetic Map12p12UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map14q23UniSTS
Cytogenetic Map1q42.1-q43UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map1p32UniSTS
Cytogenetic Map12q12UniSTS
Cytogenetic Map6q25.1-q26UniSTS
Cytogenetic Map5q13UniSTS
Cytogenetic Map12q13.11-q14.3UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map17q23.1UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map1q41UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map12p13.2UniSTS
Cytogenetic Map3q28-q29UniSTS
Cytogenetic Map7q11.21UniSTS
Cytogenetic Map1q41-q42.2UniSTS
Cytogenetic Map12q24.2-q24.31UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map11p11.11UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map1q43UniSTS
Cytogenetic Map1p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map8q11.2UniSTS
Cytogenetic Map15q11-q13UniSTS
Cytogenetic Map13q12-q14UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q13.31UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map6p25.2UniSTS
Cytogenetic Map1q44UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map13q32.2UniSTS
Cytogenetic Map5q11.2UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q23.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map14q31UniSTS
Cytogenetic Map8p12-p11UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic MapXq28UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map17q23.2UniSTS
Cytogenetic MapXq25UniSTS
Cytogenetic Map21q22.1UniSTS
Cytogenetic Map4q25-q27UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map3q25.31UniSTS
Cytogenetic Map1p34.2UniSTS
Cytogenetic Map1p36.22UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.3UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map3p22-p21.3UniSTS
Cytogenetic Map2p15-p13UniSTS
Cytogenetic MapXp11.4UniSTS
Cytogenetic Map20p11UniSTS
Cytogenetic Map3p14.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map13q11-q12UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map3q12UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p13.11UniSTS
Cytogenetic Map6q16.1UniSTS
Cytogenetic Map13q14.13UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map4q28-q32UniSTS
Cytogenetic Map11p15UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic Map7p14.2UniSTS
Cytogenetic Map6q25UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map18p11.22UniSTS
Cytogenetic Map9p24.3UniSTS
Cytogenetic Map2p25.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map1q22-q23UniSTS
Cytogenetic Map4q21.22UniSTS
Cytogenetic Map13q14.2UniSTS
Cytogenetic Map2q24.3UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map9q31-q33UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map10p11.21UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map3q21.1UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4q28.1UniSTS
Cytogenetic Map9q31.3UniSTS
Cytogenetic Map6p22.3UniSTS
Cytogenetic Map21q21.1UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map15q26.2UniSTS
Cytogenetic Map14q22.1UniSTS
Cytogenetic Map12p12.3UniSTS
Cytogenetic Map12q13.12UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic Map12q14.3UniSTS
Cytogenetic Map5q33.3UniSTS
Cytogenetic Map5p13.2UniSTS
Cytogenetic Map4q35.2UniSTS
Cytogenetic Map4q28.2UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map12q23.1UniSTS
Cytogenetic Map11q24.3UniSTS
Cytogenetic Map10q24.32UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map20q13.2UniSTS
Cytogenetic Map8q23.3UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map3p22.2UniSTS
Cytogenetic MapXp21.1UniSTS
Cytogenetic Map7p14.3UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map5p15.3UniSTS
Cytogenetic Map15q21.2UniSTS
Cytogenetic Map22q12UniSTS
Cytogenetic Map4q22UniSTS
Cytogenetic Map2p13.1UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map1p36.3UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map2q32.1UniSTS
Cytogenetic Map7q31.3UniSTS
Cytogenetic Map5q33.1UniSTS
Cytogenetic Map13q13.1UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map15qUniSTS
Cytogenetic Map3p26UniSTS
Cytogenetic Map1p13-p12UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map14q32.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map4p16.1UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map3p25.2UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map10q21.1UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map21q22.2UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map1p36UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q24UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map2q22.3UniSTS
Cytogenetic Map20p11.21UniSTS
Cytogenetic Map12q24.1UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map2p25.1UniSTS
Cytogenetic Map4q12UniSTS
Cytogenetic Map1q12UniSTS
Cytogenetic Map22q11.22UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map14q32.3UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map5q14.1UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map1q24UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map5p15.33UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map16p13.13-p13.12UniSTS
Cytogenetic Map12p13.31UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map3q27UniSTS
Cytogenetic Map6q22UniSTS
Cytogenetic Map10p15.3UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map1p13.1UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map2p11.2UniSTS
Cytogenetic Map13q14.3UniSTS
Cytogenetic Map14q24UniSTS
Cytogenetic Map14q22-q24UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map16q24UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map8q13.1UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map12p12.1UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map1p22UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map10q11UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map8q24.11UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map9q22.33UniSTS
Cytogenetic Map9q22.31UniSTS
Cytogenetic Map11p15.5UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map12q21.31UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map19q12UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map18p11.21UniSTS
Cytogenetic Map10q22UniSTS
Cytogenetic MapXq21.1UniSTS
Cytogenetic Map9p21.1UniSTS
D10S16  
Human AssemblyChrPosition (strand)SourceJBrowse
Cytogenetic Map3p24.2UniSTS
Cytogenetic Map21q21.3UniSTS
Cytogenetic Map1p36.33UniSTS
Cytogenetic Map16q24.1UniSTS
Cytogenetic Map5q31UniSTS
Cytogenetic Map17p11.2UniSTS
Cytogenetic Map11q24.2UniSTS
Cytogenetic Map5q23.3-q31.1UniSTS
Cytogenetic Map7q32UniSTS
Cytogenetic Map1q21-q23UniSTS
Cytogenetic MapXp11.23UniSTS
Cytogenetic Map2q11.2-q12UniSTS
Cytogenetic Map7p13UniSTS
Cytogenetic Map19q13.4UniSTS
Cytogenetic Map17q25.1UniSTS
Cytogenetic Map1p36.21UniSTS
Cytogenetic Map3p22UniSTS
Cytogenetic Map19p13.2UniSTS
Cytogenetic Map2p12UniSTS
Cytogenetic Map19q13.12UniSTS
Cytogenetic Map9p13.3-p12UniSTS
Cytogenetic Map3p21.1UniSTS
Cytogenetic Map5p13.1UniSTS
Cytogenetic Map14q24.3UniSTS
Cytogenetic Map2p25.2UniSTS
Cytogenetic Map5q21-q22UniSTS
Cytogenetic Map2p22.1UniSTS
Cytogenetic Map1q32.3UniSTS
Cytogenetic Map1p36.11UniSTS
Cytogenetic Map18q12UniSTS
Cytogenetic Map19q13.41UniSTS
Cytogenetic Map17q21UniSTS
Cytogenetic Map3q27.3UniSTS
Cytogenetic Map2q37.3UniSTS
Cytogenetic Map19p13.3UniSTS
Cytogenetic Map2p15UniSTS
Cytogenetic Map20q13.32UniSTS
Cytogenetic Map10q26UniSTS
Cytogenetic Map19q13.3UniSTS
Cytogenetic Map7q21.13UniSTS
Cytogenetic Map1p33UniSTS
Cytogenetic Map1p35.1UniSTS
Cytogenetic Map9q22.3UniSTS
Cytogenetic Map17q11.2UniSTS
Cytogenetic Map12q13.2UniSTS
Cytogenetic Map22q13.31-q13.33UniSTS
Cytogenetic Map1q24.1UniSTS
Cytogenetic Map7q32.2UniSTS
Cytogenetic Map19q13.43UniSTS
Cytogenetic Map1q42.11UniSTS
Cytogenetic Map19p13.11UniSTS
Cytogenetic Map12q24.31UniSTS
Cytogenetic Map19p13.1UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map11q24UniSTS
Cytogenetic Map2q11.2-q12.1UniSTS
Cytogenetic Map3q21.2UniSTS
Cytogenetic Map19q13.1UniSTS
Cytogenetic Map19p13UniSTS
Cytogenetic Map8p11.21UniSTS
Cytogenetic Map17p13.2UniSTS
Cytogenetic Map16p13.3UniSTS
Cytogenetic Map20q12UniSTS
Cytogenetic Map2q13UniSTS
Cytogenetic Map5q31.1UniSTS
Cytogenetic Map17q22.2UniSTS
Cytogenetic Map18q21UniSTS
Cytogenetic Map11q14.2UniSTS
Cytogenetic Map16q22.1UniSTS
Cytogenetic Map4q34UniSTS
Cytogenetic Map2p22-p21UniSTS
Cytogenetic Map10q26.3UniSTS
Cytogenetic Map7q22.1UniSTS
Cytogenetic Map11q13.4UniSTS
Cytogenetic Map2q37.1UniSTS
Cytogenetic Map17q21.31UniSTS
Cytogenetic Map1p36.23UniSTS
Cytogenetic Map7p22.2UniSTS
Cytogenetic Map12q24.13UniSTS
Cytogenetic Map8p21.2UniSTS
Cytogenetic Map22q13.33UniSTS
Cytogenetic Map14q32.12UniSTS
Cytogenetic Map2q31.1UniSTS
Cytogenetic Map1p36.31UniSTS
Cytogenetic Map1p32.3UniSTS
Cytogenetic MapXq26.3UniSTS
Cytogenetic Map8p23.1UniSTS
Cytogenetic Map6q13UniSTS
Cytogenetic Map3p21.31UniSTS
Cytogenetic Map9p13.2UniSTS
Cytogenetic Map17q25UniSTS
Cytogenetic Map9q22.2UniSTS
Cytogenetic Map14q32.33UniSTS
Cytogenetic Map1q21.3UniSTS
Cytogenetic Map13q12.11UniSTS
Cytogenetic Map16p13.13UniSTS
Cytogenetic Map11p15.4UniSTS
Cytogenetic Map7q22UniSTS
Cytogenetic Map3q21UniSTS
Cytogenetic Map11q12.3UniSTS
Cytogenetic Map22q13UniSTS
Cytogenetic Map4p16.3UniSTS
Cytogenetic Map11p15.3-p15.1UniSTS
Cytogenetic Map11q13UniSTS
Cytogenetic Map22q11.21UniSTS
Cytogenetic Map10q22.2UniSTS
Cytogenetic Map17p13.3UniSTS
Cytogenetic Map7p22.3UniSTS
Cytogenetic Map3p21UniSTS
Cytogenetic MapXp22.3UniSTS
Cytogenetic Map1q42.3UniSTS
Cytogenetic Map18q11.2UniSTS
Cytogenetic Map6p24.3UniSTS
Cytogenetic Map7q34UniSTS
Cytogenetic Map16p11.2UniSTS
Cytogenetic Map1q25UniSTS
Cytogenetic Map15q11.2UniSTS
Cytogenetic Map19p13.12UniSTS
Cytogenetic Map3q26UniSTS
Cytogenetic Map12p12.1-p11.2UniSTS
Cytogenetic Map11q23.1UniSTS
Cytogenetic Map13q14.11UniSTS
Cytogenetic Map22q13.1UniSTS
Cytogenetic Map7p15.2UniSTS
Cytogenetic Map1q21UniSTS
Cytogenetic Map10q11.22UniSTS
Cytogenetic Map5p12UniSTS
Cytogenetic Map6q21UniSTS
Cytogenetic Map9q21.13UniSTS
Cytogenetic Map5q13.2UniSTS
Cytogenetic Map19q13.2UniSTS
Cytogenetic MapXq23UniSTS
Cytogenetic Map2p21UniSTS
Cytogenetic Map22q11.1UniSTS
Cytogenetic Map16q13UniSTS
Cytogenetic Map16pUniSTS
Cytogenetic Map11q13.2UniSTS
Cytogenetic MapXp11.3UniSTS
Cytogenetic Map1q25.1UniSTS
Cytogenetic Map10q23-q24UniSTS
Cytogenetic Map20p13UniSTS
Cytogenetic Map7q31UniSTS
Cytogenetic Map6q23.3UniSTS
Cytogenetic MapXp22.2UniSTS
Cytogenetic Map9q32UniSTS
Cytogenetic Map1q32.1UniSTS
Cytogenetic Map17q25.3UniSTS
Cytogenetic Map20q11.22UniSTS
Cytogenetic Map4q35.1UniSTS
Cytogenetic Map3q21.3UniSTS
Cytogenetic Map5q12.3UniSTS
Cytogenetic Map6q25.1UniSTS
Cytogenetic Map14q24.1UniSTS
Cytogenetic Map2q33.2UniSTS
Cytogenetic Map20q13.13UniSTS
Cytogenetic Map14q23.2UniSTS
Cytogenetic Map15q24.1UniSTS
Cytogenetic Map3q23UniSTS
Cytogenetic Map8q23.1UniSTS
Cytogenetic Map2q14.3UniSTS
Cytogenetic Map20q13.33UniSTS
Cytogenetic Map21q22.11UniSTS
Cytogenetic Map5p15.1UniSTS
Cytogenetic Map15q13.1UniSTS
Cytogenetic Map15q26.1UniSTS
Cytogenetic Map7q32.1UniSTS
Cytogenetic Map8p21.3UniSTS
Cytogenetic Map1p31.1UniSTS
Cytogenetic Map17qterUniSTS
Cytogenetic Map11q13.1UniSTS
Cytogenetic Map12q22UniSTS
Cytogenetic Map16q22.2UniSTS
Cytogenetic Map14q32UniSTS
Cytogenetic MapXp22.33UniSTS
Cytogenetic MapYp11.32UniSTS
Cytogenetic Map14q24.2UniSTS
Cytogenetic Map3p25.3UniSTS
Cytogenetic Map13q34UniSTS
Cytogenetic Map10p11.23UniSTS
Cytogenetic Map15q15.2UniSTS
Cytogenetic Map8p21.1UniSTS
Cytogenetic Map22q12.2UniSTS
Cytogenetic Map15q22.2UniSTS
Cytogenetic Map15q21UniSTS
Cytogenetic Map6p21.31UniSTS
Cytogenetic Map10q23.1UniSTS
Cytogenetic Map1p36.2UniSTS
Cytogenetic Map2p16.1UniSTS
Cytogenetic Map22q11.2UniSTS
Cytogenetic Map17q23.3UniSTS
Cytogenetic Map12q13.13UniSTS
Cytogenetic Map20q12-q13.12UniSTS
Cytogenetic Map3q26.33UniSTS
Cytogenetic Map5q31.2-q34UniSTS
Cytogenetic Map5q31.2UniSTS
Cytogenetic Map8q24.3UniSTS
Cytogenetic Map5q35.3UniSTS
Cytogenetic MapXq13-q21UniSTS
Cytogenetic Map7q11.23UniSTS
Cytogenetic Map1pter-q31.3UniSTS
Cytogenetic Map15q21.1UniSTS
Cytogenetic Map3q13.33UniSTS
Cytogenetic MapXq13.1UniSTS
Cytogenetic Map3p23-p21UniSTS
Cytogenetic Map11q22-q23UniSTS
Cytogenetic Map1p34.1UniSTS
Cytogenetic Map2q21.1UniSTS
Cytogenetic Map6p21.3UniSTS
Cytogenetic Map7p11.2UniSTS
Cytogenetic Map7p22.1UniSTS
Cytogenetic Map17q21.33UniSTS
Cytogenetic Map14q32.31UniSTS
Cytogenetic Map10q11.21UniSTS
Cytogenetic Map16q22UniSTS
Cytogenetic Map2q24UniSTS
Cytogenetic Map1q23.3UniSTS
Cytogenetic Map3q13.13UniSTS
Cytogenetic Map19p12UniSTS
Cytogenetic Map16p13.1UniSTS
Cytogenetic Map19q13.11UniSTS
Cytogenetic MapXp22.12UniSTS
Cytogenetic Map9q21.33UniSTS
Cytogenetic Map5q32UniSTS
Cytogenetic Map16q11.2UniSTS
Cytogenetic Map10p12.31UniSTS
Cytogenetic Map3q25.33UniSTS
Cytogenetic Map8q21.2UniSTS
Cytogenetic Map10q26.13UniSTS
Cytogenetic Map10q25.3UniSTS
Cytogenetic Map15q14-q15UniSTS
Cytogenetic Map8p11.2UniSTS
Cytogenetic Map1p34.3UniSTS
Cytogenetic Map4p15.2UniSTS
Cytogenetic Map17q12UniSTS
Cytogenetic Map7p15.3UniSTS
Cytogenetic Map7p21.1UniSTS
Cytogenetic Map1p36.32UniSTS
Cytogenetic Map1p36.1-p34UniSTS
Cytogenetic Map4p13UniSTS
Cytogenetic Map7q31.1-q31.2UniSTS
Cytogenetic Map8q22.2UniSTS
Cytogenetic Map15q21.1-q21.2UniSTS
Cytogenetic Map16q21UniSTS
Cytogenetic MapXq12UniSTS
Cytogenetic Map7q36.1UniSTS
Cytogenetic Map7p14.1UniSTS
Cytogenetic Map6p23UniSTS
Cytogenetic Map3p11.1UniSTS
Cytogenetic Map15q21.3UniSTS
Cytogenetic Map13q12UniSTS
Cytogenetic Map12q23.2UniSTS
Cytogenetic Map22q13.2UniSTS
Cytogenetic Map16q22.3UniSTS
Cytogenetic MapXq21UniSTS
Cytogenetic Map15q15UniSTS
Cytogenetic Map4q25UniSTS
Cytogenetic Map3q22.1UniSTS
Cytogenetic Map1q25.2UniSTS
Cytogenetic Map11q14.3UniSTS
Cytogenetic Map10q21.3UniSTS
Cytogenetic Map14q11.2UniSTS
Cytogenetic Map15q24.2UniSTS
Cytogenetic Map2p14UniSTS
Cytogenetic Map7q11.1UniSTS
Cytogenetic Map6p21UniSTS
Cytogenetic Map2p25.1-p24.1UniSTS
Cytogenetic Map16p12.2UniSTS
Cytogenetic Map4q13.3UniSTS
Cytogenetic Map12p11.21UniSTS
Cytogenetic Map18q21.3UniSTS
Cytogenetic Map17p13UniSTS
Cytogenetic Map8q12UniSTS
Cytogenetic Map2q35UniSTS
Cytogenetic Map21q22.13UniSTS
Cytogenetic Map6p21.1UniSTS
Cytogenetic Map17q24.3UniSTS
Cytogenetic Map1p21UniSTS
Cytogenetic MapXq24UniSTS
Cytogenetic Map2q34UniSTS
Cytogenetic Map8p11.23UniSTS
Cytogenetic Map1p36.13UniSTS
Cytogenetic Map9q34.3UniSTS
Cytogenetic Map11q23.3UniSTS
Cytogenetic Map9q33.3UniSTS
Cytogenetic Map16p12UniSTS
Cytogenetic Map2p23.3UniSTS
Cytogenetic Map20q11.23UniSTS
Cytogenetic Map12q15UniSTS
Cytogenetic Map2q12.2UniSTS
Cytogenetic Map8p12UniSTS
Cytogenetic Map7q22.3UniSTS
Cytogenetic Map19q13.42UniSTS
Cytogenetic Map4q35UniSTS
Cytogenetic Map19q13.1-q13.2UniSTS
Cytogenetic Map16p13.12UniSTS
Cytogenetic Map9q34.1UniSTS
Cytogenetic Map7q36.2UniSTS
Cytogenetic Map3p23UniSTS
Cytogenetic Map6p25UniSTS
Cytogenetic Map9q22.1-q22.2UniSTS
Cytogenetic Map3q26.1-q26.2UniSTS
Cytogenetic Map5q31-q34UniSTS
Cytogenetic Map9q34UniSTS
Cytogenetic Map12p13UniSTS
Cytogenetic Map4q26UniSTS
Cytogenetic Map4p15.3UniSTS
Cytogenetic Map2q33.1UniSTS
Cytogenetic Map15q15.1UniSTS
Cytogenetic Map1p32-p31UniSTS
Cytogenetic Map7q36.3UniSTS
Cytogenetic Map4q22.1UniSTS
Cytogenetic Map3q13.2UniSTS
Cytogenetic Map2q33.3UniSTS
Cytogenetic Map8p22UniSTS
Cytogenetic Map22q11.23UniSTS
Cytogenetic Map19q13.32UniSTS
Cytogenetic Map18q21.32UniSTS
Cytogenetic Map15q26.3UniSTS
Cytogenetic Map12q14.2UniSTS
Cytogenetic Map2q31.1-q31.2UniSTS
Cytogenetic Map12q13.11UniSTS
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map9q34.11UniSTS
Cytogenetic Map6p12.3UniSTS
Cytogenetic Map6q22.32UniSTS
Cytogenetic Map5q15UniSTS
Cytogenetic Map3p14.2UniSTS
Cytogenetic Map3p25.1UniSTS
Cytogenetic Map3q27.1UniSTS
Cytogenetic Map2q36.1UniSTS
Cytogenetic Map2q37UniSTS
Cytogenetic Map19q13.31UniSTS
Cytogenetic Map4q23UniSTS
Cytogenetic Map16q24.3UniSTS
Cytogenetic Map15q22.31UniSTS
Cytogenetic Map10q22.1UniSTS
Cytogenetic Map18q11.1UniSTS
Cytogenetic Map16q23.2UniSTS
Cytogenetic Map12q13UniSTS
Cytogenetic Map18q21.1UniSTS
Cytogenetic Map12q12-q13UniSTS
Cytogenetic Map9p22.3UniSTS
Cytogenetic Map6p21.2UniSTS
Cytogenetic Map6p22.1UniSTS
Cytogenetic Map11p15.1UniSTS
Cytogenetic Map19qterUniSTS
Cytogenetic Map20q13.3-qterUniSTS
Cytogenetic Map12q14.1UniSTS
Cytogenetic Map7p11UniSTS
Cytogenetic Map7p15UniSTS
Cytogenetic Map1p13.3UniSTS
Cytogenetic Map16p12.3UniSTS
Cytogenetic Map3q29UniSTS
Cytogenetic Map3p21.3UniSTS
Cytogenetic Map13q14UniSTS
Cytogenetic Map17pUniSTS
Cytogenetic Map11p14.1UniSTS
Cytogenetic Map2p13.2UniSTS
Cytogenetic Map15q25.2UniSTS
Cytogenetic Map10q11.23UniSTS
Cytogenetic Map20q13.12UniSTS
Cytogenetic Map13q22.1UniSTS
Cytogenetic Map17p13.1UniSTS
Cytogenetic Map14q23.3UniSTS
Cytogenetic Map3q26.2UniSTS


Expression


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

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High
Medium 2020 2157 1361 335 388 192 3217 1979 1015 334 1137 1341 147 1 1204 2268 3 2
Low 408 114 361 289 269 273 1140 214 2719 85 322 266 27 520 3
Below cutoff 10 716 4 1009 4 1 6

Sequence


RefSeq Acc Id: ENST00000531380   ⟹   ENSP00000434034
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1186,945,679 - 86,955,395 (-)Ensembl
RefSeq Acc Id: NM_012193   ⟹   NP_036325
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,945,679 - 86,955,395 (-)NCBI
GRCh371186,656,717 - 86,666,440 (-)ENTREZGENE
GRCh371186,656,717 - 86,666,440 (-)NCBI
Build 361186,334,369 - 86,344,081 (-)NCBI Archive
HuRef1182,945,786 - 82,952,580 (-)ENTREZGENE
CHM1_11186,542,809 - 86,552,528 (-)NCBI
T2T-CHM13v2.01186,886,525 - 86,896,237 (-)NCBI
Sequence:
RefSeq Acc Id: NP_036325   ⟸   NM_012193
- Peptide Label: precursor
- UniProtKB: Q14C97 (UniProtKB/Swiss-Prot),   A8K9Q3 (UniProtKB/Swiss-Prot),   Q6S9E4 (UniProtKB/Swiss-Prot),   Q9ULV1 (UniProtKB/Swiss-Prot),   Q8TDT8 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: ENSP00000434034   ⟸   ENST00000531380
Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-Q9ULV1-F1-model_v2 AlphaFold Q9ULV1 1-537 view protein structure

Promoters
RGD ID:6788968
Promoter ID:HG_KWN:13889
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_012193,   UC001PCF.2
Position:
Human AssemblyChrPosition (strand)Source
Build 361186,344,026 - 86,344,732 (-)MPROMDB
RGD ID:7221763
Promoter ID:EPDNEW_H16627
Type:initiation region
Name:FZD4_1
Description:frizzled class receptor 4
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381186,955,395 - 86,955,455EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4042 AgrOrtholog
COSMIC FZD4 COSMIC
Ensembl Genes ENSG00000174804 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot
Ensembl Transcript ENST00000531380 ENTREZGENE
  ENST00000531380.2 UniProtKB/Swiss-Prot
Gene3D-CATH 1.10.2000.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Rhodopsin 7-helix transmembrane proteins UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000174804 GTEx
HGNC ID HGNC:4042 ENTREZGENE
Human Proteome Map FZD4 Human Proteome Map
InterPro Frizzled/SFRP UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled/Smoothened_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled_dom_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  FZ4_CRD UniProtKB/Swiss-Prot
  FZD4_TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_2-like UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:8322 UniProtKB/Swiss-Prot
NCBI Gene 8322 ENTREZGENE
OMIM 604579 OMIM
PANTHER PTHR11309 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11309:SF23 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Frizzled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PF01392 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA28459 PharmGKB
PRINTS FRIZZLED UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F2_4 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PS50038 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART FRI UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Frizzled UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF63501 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K9Q3 ENTREZGENE
  FZD4_HUMAN UniProtKB/Swiss-Prot
  Q14C97 ENTREZGENE
  Q6S9E4 ENTREZGENE
  Q8TDT8 ENTREZGENE, UniProtKB/TrEMBL
  Q9BY80_HUMAN UniProtKB/TrEMBL
  Q9ULV1 ENTREZGENE
UniProt Secondary A8K9Q3 UniProtKB/Swiss-Prot
  Q14C97 UniProtKB/Swiss-Prot
  Q6S9E4 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-03-28 FZD4  frizzled class receptor 4  EVR1  exudative vitreoretinopathy 1 (autosomal dominant; Criswick-Schepens syndrome)  Data merged from RGD:1345834 737654 PROVISIONAL
2014-02-04 FZD4  frizzled class receptor 4  FZD4  frizzled family receptor 4  Symbol and/or name change 5135510 APPROVED
2011-07-27 FZD4  frizzled family receptor 4  FZD4  frizzled homolog 4 (Drosophila)  Symbol and/or name change 5135510 APPROVED