RGD:12845687 Rat Genome Database

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Variant: RGD:12845687 -  Homo sapiens

RGD ID: 12845687
RS ID: rs368032547
ClinVar ID: CV378136
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NDUFA11  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 5,897,013
GRCh38 19 5,897,002
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_175614.5:c.98-5C>T
NG_027808.1:g.12012C>T
NC_000019.10:g.5897002G>A
NC_000019.9:g.5897013G>A
More... 		02/01/2016 intron variant likely benign AllHighlyPenetrant; none provided

Variant Details
Variant Transcripts
Gene Symbol:NDUFA11
Accession:NM_001193375
Location:INTRON

Gene Symbol:NDUFA11
Accession:NM_175614
Location:INTRON

Gene Symbol:NDUFA11
Accession:NR_034166
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000440273 CLINVAR
  RCV002521597 CLINVAR
dbSNP (RS) rs368032547 CLINVAR
MedGen C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene NDUFA11 CLINVAR
OMIM 612638 CLINVAR