RGD:12840318 Rat Genome Database

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Variant: RGD:12840318 -  Homo sapiens

RGD ID: 12840318
RS ID: rs61742811
ClinVar ID: CV379581
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: COQ8B  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 19 41,197,930
GRCh38 19 40,692,025
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_027800.1:g.29861T>C
NC_000019.10:g.40692025A>G
NC_000019.9:g.41197930A>G
NM_001142555.3:c.*10T>C
More... 		10/08/2021 3 prime utr variant benign|likely benign AllHighlyPenetrant
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:COQ8B
Accession:NM_001142555
Location:3UTRS;EXON

Gene Symbol:COQ8B
Accession:NM_024876
Location:3UTRS;EXON

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000430471 CLINVAR
  RCV002506050 CLINVAR
dbSNP (RS) rs61742811 CLINVAR
MedGen C3809965 CLINVAR
  CN169374 CLINVAR
NCBI Gene COQ8B CLINVAR
OMIM 615567 CLINVAR
  615573 CLINVAR