RGD:127242936 Rat Genome Database

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Variant: RGD:127242936 -  Homo sapiens

RGD ID: 127242936
RS ID: rs2131614795
ClinVar ID: CV1075567
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 87,679,143
GRCh38 8 86,666,915
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_019098.5:c.852+10G>A
NG_016980.1:g.81761G>A
NC_000008.11:g.86666915C>T
NC_000008.10:g.87679143C>T
 08/20/2020 intron variant likely benign 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:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001393424 CLINVAR
dbSNP (RS) rs2131614795 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR