RGD:15152084 Rat Genome Database

Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

Variant: RGD:15152084 -  Homo sapiens

RGD ID: 15152084
RS ID: rs199934542
ClinVar ID: CV731280
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 41,198,284
GRCh38 19 40,692,379
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.1174-6T>G
NM_024876.4:c.1297-6T>G
NG_027800.1:g.29507T>G
NC_000019.10:g.40692379A>C
More...
05/12/2020 intron variant likely benign|conflicting interpretations of pathogenicity|uncertain significance none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COQ8B
Accession:NM_024876
Location:INTRON

Gene Symbol:COQ8B
Accession:NM_001142555
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000879734 CLINVAR
  RCV002298797 CLINVAR
dbSNP (RS) rs199934542 CLINVAR
MedGen C3661900 CLINVAR
  C3809965 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR
  615573 CLINVAR