RGD:11657574 Rat Genome Database

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Variant: RGD:11657574 -  Homo sapiens

RGD ID: 11657574
RS ID: rs886058777
ClinVar ID: CV295936
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDHB  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 58,413,562
GRCh38 3 58,427,835
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
NM_000925.4:c.*199T>G
NG_016860.1:g.11018T>G
NC_000003.12:g.58427835A>C
NC_000003.11:g.58413562A>C
More... 		06/14/2016 3 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
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:PDHB
Accession:NM_001173468
Location:3UTRS;EXON

Gene Symbol:PDHB
Accession:NM_000925
Location:3UTRS;EXON

Gene Symbol:PDHB
Accession:NM_001315536
Location:3UTRS;EXON

Gene Symbol:PDHB
Accession:NR_033384
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000342476 CLINVAR
dbSNP (RS) rs886058777 CLINVAR
MedGen C0034345 CLINVAR
NCBI Gene PDHB CLINVAR
OMIM 179060 CLINVAR
  312170 CLINVAR
SNOMED CT 46683007 CLINVAR