RGD:14719334 Rat Genome Database

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Variant: RGD:14719334 -  Homo sapiens

RGD ID: 14719334
RS ID: rs41303131
ClinVar ID: CV657431
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 227,174,122
GRCh38 1 226,986,421
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012825.2:g.93886C>G
NC_000001.11:g.226986421C>G
NC_000001.10:g.227174122C>G
NM_020247.4:c.1660-32C>G
More... 		06/14/2018 intron variant benign none provided

Variant Details
Variant Transcripts
Gene Symbol:COQ8A
Accession:NM_020247
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_005273201
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_011544238
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_011544239
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_024448517
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_024448518
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_047425745
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_047425732
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_047425739
Location:INTRON

Gene Symbol:COQ8A
Accession:XM_047425749
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000830726 CLINVAR
dbSNP (RS) rs41303131 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COQ8A CLINVAR
OMIM 606980 CLINVAR