RGD:11599599 Rat Genome Database

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Variant: RGD:11599599 -  Homo sapiens

RGD ID: 11599599
ClinVar ID: CV318259
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DLAT  PIH1D2  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 111,933,678
GRCh38 11 112,062,954
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.43141A>G
NC_000011.10:g.112062954A>G
NC_000011.9:g.111933678A>G
NM_001931.4:c.*419A>G
More... 		06/14/2016 3 prime utr variant benign 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)
CV318259HumanDecreased activity of the pyruvate dehydrogenase complex  IAGP 8554872ClinVar Annotator: match by term: Pyruvate dehydrogenase complex deficiencyClinVar 
Gene Symbol:DLAT
Accession:NM_001372040
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372039
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372038
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372041
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372037
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372042
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372033
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372035
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372036
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372031
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372034
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001931
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NM_001372032
Location:3UTRS;EXON

Gene Symbol:DLAT
Accession:NR_164072
Location:EXON;NON-CODING

Gene Symbol:PIH1D2
Accession:XM_017017201
Location:INTRON

Gene Symbol:PIH1D2
Accession:NM_138789
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_024448349
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_047426366
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_017017203
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_047426369
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_017017204
Location:INTRON

Gene Symbol:PIH1D2
Accession:NM_001082619
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_017017205
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_024448350
Location:INTRON

Gene Symbol:PIH1D2
Accession:XM_047426368
Location:INTRON

Gene Symbol:PIH1D2
Accession:XR_007062450
Location:INTRON;NON-CODING

Gene Symbol:PIH1D2
Accession:XR_007062449
Location:INTRON;NON-CODING

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