RGD:12833703 Rat Genome Database

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Variant: RGD:12833703 -  Homo sapiens

RGD ID: 12833703
RS ID: rs146951703
ClinVar ID: CV369689
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFB9  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 125,555,533
GRCh38 8 124,543,292
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_042266.1:g.9191T>C
NC_000008.11:g.124543292T>C
NC_000008.10:g.125555533T>C
NM_005005.3:c.294+13T>C
More... 		07/21/2021 intron variant benign|likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFB9
Accession:NM_005005
Location:INTRON

Gene Symbol:NDUFB9
Accession:NM_001278645
Location:INTRON

Gene Symbol:NDUFB9
Accession:NM_001278646
Location:INTRON

Gene Symbol:NDUFB9
Accession:NM_001311168
Location:INTRON

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000419004 CLINVAR
  RCV002063482 CLINVAR
dbSNP (RS) rs146951703 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NDUFB9 CLINVAR
OMIM 601445 CLINVAR