RGD:8560752 Rat Genome Database

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Variant: RGD:8560752 -  Homo sapiens

RGD ID: 8560752
RS ID: rs121918532
ClinVar ID: CV23936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB1  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 16 57,931,817
GRCh38 16 57,897,913
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
NG_016351.1:g.78204G>T
NC_000016.10:g.57897913C>A
NC_000016.9:g.57931817C>A
NP_001288.3:p.Gly993Val
More... 		02/24/2011 missense|missense variant pathogenic adolescent|childhood|variable 1-5 / 10 000
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:CNGB1
Accession:NM_001297
Location:EXON

Gene Symbol:CNGB1
Accession:NM_001286130
Location:EXON

Gene Symbol:CNGB1
Accession:NM_001135639
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:11379879  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000009448 CLINVAR
dbSNP (RS) rs121918532 CLINVAR
MedGen C3151066 CLINVAR
NCBI Gene CNGB1 CLINVAR
OMIM 600724 CLINVAR
  613767 CLINVAR
OMIM Allele 600724.0001 CLINVAR