RGD:11609578 Rat Genome Database

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Variant: RGD:11609578 -  Homo sapiens

RGD ID: 11609578
RS ID: rs76663700
ClinVar ID: CV320313
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDHX  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 11 35,016,833
GRCh38 11 34,995,286
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NG_013368.1:g.84157A>G
NC_000011.10:g.34995286A>G
NC_000011.9:g.35016833A>G
NM_003477.3:c.*114A>G
More... 		01/12/2018 3 prime utr variant likely benign|uncertain significance neonatal/infancy E3-Binding Protein (Component X) Deficiency; LACTIC ACIDEMIA DUE TO DEFECT IN LIPOYL-CONTAINING COMPONENT X OF THE PYRUVATE DEHYDROGENASE COMPLEX; PYRUVATE HYDROGENASE E3-BINDING PROTEIN DEFICIENCY
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDHX
Accession:NM_003477
Location:3UTRS;EXON

Gene Symbol:PDHX
Accession:XM_011520390
Location:3UTRS;EXON

Gene Symbol:PDHX
Accession:NM_001166158
Location:3UTRS;EXON

Gene Symbol:PDHX
Accession:NM_001135024
Location:3UTRS;EXON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000370344 CLINVAR
dbSNP (RS) rs76663700 CLINVAR
MedGen C1855553 CLINVAR
NCBI Gene PDHX CLINVAR
OMIM 245349 CLINVAR
  608769 CLINVAR