RGD:150490868 Rat Genome Database

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Variant: RGD:150490868 -  Homo sapiens

RGD ID: 150490868
RS ID: rs116796128
ClinVar ID: CV1267684
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 41,209,256
GRCh38 19 40,703,351
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.676+190T>C
NM_024876.4:c.799+190T>C
NG_027800.1:g.18535T>C
NC_000019.10:g.40703351A>G
More...
06/26/2018 intron variant 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 RCV001687708 CLINVAR
dbSNP (RS) rs116796128 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR