RGD:11050662 Rat Genome Database

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Variant: RGD:11050662 -  Homo sapiens

RGD ID: 11050662
RS ID: rs869320630
ClinVar ID: CV226680
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: OVOL2  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 20 18,038,552
GRCh38 20 18,057,908
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Prevalence Trait Synonyms
NM_001303461.1:c.-297+982T>G
NG_046859.1:g.6281T>G
NC_000020.11:g.18057908A>C
NC_000020.10:g.18038552A>C
More... 		03/30/2016 2kb upstream variant|5 prime utr variant|intron variant pathogenic childhood 1-9 / 100 000 CORNEAL ENDOTHELIAL DYSTROPHY 1, AUTOSOMAL DOMINANT
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:OVOL2
Accession:NM_021220
Location:5UTRS;EXON

Gene Symbol:OVOL2
Accession:NM_001303462
Location:5UTRS;INTRON

Gene Symbol:OVOL2
Accession:NM_001303461
Location:5UTRS;INTRON

Variant Samples
Additional References at PubMed
PMID:26749309  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000210412 CLINVAR
dbSNP (RS) rs869320630 CLINVAR
MedGen C1852555 CLINVAR
NCBI Gene OVOL2 CLINVAR
OMIM 121700 CLINVAR
  122000 CLINVAR
  616441 CLINVAR
OMIM Allele 616441.0004 CLINVAR