RGD:11650502 Rat Genome Database

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Variant: RGD:11650502 -  Homo sapiens

RGD ID: 11650502
ClinVar ID: CV325073
Genic Status: INTERGENIC
Type: SNV (SO:0001483) 
Reference Nucleotide: T
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 11 111,895,814
GRCh38 11 112,025,090
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Age of Onset
Trait Synonyms
NG_013342.1:g.5277T>A
NC_000011.10:g.112025090T>A
NC_000011.9:g.111895814T>A
NM_001931.4:c.-383T>A
 06/14/2016 5 prime utr variant uncertain significance neonatal/infancy Ataxia with lactic acidosis 1; PDH DEFICIENCY; Pyruvate decarboxylase deficiency; Pyruvate Dehydrogenase Complex Deficiency Disease; Pyruvate dehydrogenase deficiency
Object Symbol
Species
Term
Qualifier
Evidence
With
Reference
Notes
Source
Original Reference(s)
CV325073HumanDecreased activity of the pyruvate dehydrogenase complex  IAGP 8554872ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyClinVar 

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