RGD:151854554 Rat Genome Database

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Variant: RGD:151854554 -  Homo sapiens

RGD ID: 151854554
RS ID: rs2131529676
ClinVar ID: CV1481697
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 87,588,360
GRCh38 8 86,576,132
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000008.11:g.86576132T>C
NC_000008.10:g.87588360T>C
NM_019098.5:c.2104-2A>G
NG_016980.1:g.172544A>G
 10/16/2021 splice acceptor variant uncertain significance none provided

Variant Details
Variant Transcripts
Gene Symbol:CNGB3
Accession:NM_019098
Location:INTRON

Gene Symbol:CNGB3
Accession:XM_011517138
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:9536098   PMID:17576681   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002033609 CLINVAR
dbSNP (RS) rs2131529676 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR