RGD:14734942 Rat Genome Database

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Variant: RGD:14734942 -  Homo sapiens

RGD ID: 14734942
RS ID: rs182723600
ClinVar ID: CV669902
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 41,201,770
GRCh38 19 40,695,865
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001142555.3:c.1086+124C>T
NM_024876.4:c.1209+124C>T
NG_027800.1:g.26021C>T
NC_000019.10:g.40695865G>A
More... 		06/14/2018 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 Information

Database Acc Id Source(s)
ClinVar RCV000837784 CLINVAR
dbSNP (RS) rs182723600 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR