RGD:11634742 Rat Genome Database

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Variant: RGD:11634742 -  Homo sapiens

RGD ID: 11634742
RS ID: rs145779574
ClinVar ID: CV279715
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8A  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 1 227,175,199
GRCh38 1 226,987,498
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.226987498G>A
NC_000001.10:g.227175199G>A
NG_012825.2:g.94963G>A
NM_020247.5:c.*761G>A
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance Coenzyme Q10 deficiency, primary, 4; none provided; 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 RCV000272539 CLINVAR
  RCV000325434 CLINVAR
  RCV001785549 CLINVAR
dbSNP (RS) rs145779574 CLINVAR
MedGen C2677589 CLINVAR
  C3661900 CLINVAR
  CN239204 CLINVAR
NCBI Gene COQ8A CLINVAR
OMIM 606980 CLINVAR
  612016 CLINVAR