RGD:11604722 Rat Genome Database

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Variant: RGD:11604722 -  Homo sapiens

RGD ID: 11604722
ClinVar ID: CV315385
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDP1  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 94,936,493
GRCh38 8 93,924,265
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_012233.1:g.12332A>G
NC_000008.11:g.93924265A>G
NC_000008.10:g.94936493A>G
NM_001161779.1:c.*592A>G
More...
06/14/2016 3 prime utr variant uncertain significance Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency

Variant Details
Variant Transcripts
Gene Symbol:PDP1
Accession:XM_047421908
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:NM_001161779
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_047421905
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:NM_001161780
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_047421907
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_047421906
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_017013588
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_047421904
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:NM_018444
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:NM_001161781
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_047421909
Location:3UTRS;EXON

Variant Samples