RGD:26918703 Rat Genome Database

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Variant: RGD:26918703 -  Homo sapiens

RGD ID: 26918703
RS ID: rs373232101
ClinVar ID: CV852670
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB1  LOC127884142  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 16 57,973,498
GRCh38 16 57,939,594
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001286130.2:c.1192-2A>G
NM_001297.5:c.1210-2A>G
NG_016351.1:g.36523A>G
NC_000016.10:g.57939594T>C
More... 		01/02/2020 splice acceptor variant likely pathogenic none provided
Disease Annotations     Click to see Annotation Detail View


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

Gene Symbol:CNGB1
Accession:NM_001286130
Location:INTRON

Gene Symbol:CNGB1
Accession:NM_001135639
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:15557452   PMID:16199547   PMID:24043777   PMID:25741868   PMID:28492532   PMID:31980526  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001044110 CLINVAR
  RCV002489581 CLINVAR
dbSNP (RS) rs373232101 CLINVAR
MedGen C3151066 CLINVAR
  C3661900 CLINVAR
NCBI Gene CNGB1 CLINVAR
OMIM 600724 CLINVAR
  613767 CLINVAR