RGD:11651746 Rat Genome Database

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Variant: RGD:11651746 -  Homo sapiens

RGD ID: 11651746
RS ID: rs886046073
ClinVar ID: CV280950
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8A  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 227,175,069
GRCh38 1 226,987,368
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.226987368C>G
NC_000001.10:g.227175069C>G
NG_012825.2:g.94833C>G
NM_020247.4:c.*631C>G
More... 		06/14/2016 3 prime utr variant uncertain significance Coenzyme Q10 deficiency, primary, 4; Spinocerebellar ataxia, autosomal recessive 9
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COQ8A
Accession:NM_020247
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_005273201
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_011544238
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_011544239
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_024448517
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_024448518
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_047425745
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_047425732
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_047425739
Location:3UTRS;EXON

Gene Symbol:COQ8A
Accession:XM_047425749
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000300587 CLINVAR
  RCV000334300 CLINVAR
dbSNP (RS) rs886046073 CLINVAR
MedGen C2677589 CLINVAR
  CN239204 CLINVAR
NCBI Gene COQ8A CLINVAR
OMIM 606980 CLINVAR
  612016 CLINVAR