RGD:152064910 Rat Genome Database

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Variant: RGD:152064910 -  Homo sapiens

RGD ID: 152064910
RS ID: rs376081117
ClinVar ID: CV1525882
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 41,211,370
GRCh38 19 40,705,465
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_024876.4:c.368-18T>C
NM_001142555.3:c.368-284T>C
NG_027800.1:g.16421T>C
NC_000019.10:g.40705465A>G
More...
08/02/2021 intron variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COQ8B
Accession:NM_024876
Location:INTRON

Gene Symbol:COQ8B
Accession:NM_001142555
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV002128835 CLINVAR
dbSNP (RS) rs376081117 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR