RGD:402501493 Rat Genome Database

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Variant: RGD:402501493 -  Homo sapiens

RGD ID: 402501493
ClinVar ID: CV3035465
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CNGB3  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 8 87,680,246
GRCh38 8 86,668,018
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.643+1G>A
NG_016980.1:g.80658G>A
NC_000008.11:g.86668018C>T
NC_000008.10:g.87680246C>T
 06/25/2023 splice donor variant likely pathogenic 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:16199547   PMID:28492532   PMID:28795510  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003714784 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene CNGB3 CLINVAR
OMIM 605080 CLINVAR