RGD:405035079 Rat Genome Database

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Variant: RGD:405035079 -  Homo sapiens

RGD ID: 405035079
ClinVar ID: CV3130423
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 87,616,307
GRCh38 8 86,604,079
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.1781+14A>G
NG_016980.1:g.144597A>G
NC_000008.11:g.86604079T>C
NC_000008.10:g.87616307T>C
10/23/2023 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 RCV003830830 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR