RGD:11603099 Rat Genome Database

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Variant: RGD:11603099 -  Homo sapiens

RGD ID: 11603099
ClinVar ID: CV306069
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDP1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 8 94,937,637
GRCh38 8 93,925,409
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.13476G>C
NC_000008.11:g.93925409G>C
NC_000008.10:g.94937637G>C
NM_001161779.1:c.*1736G>C
More... 		06/14/2016 3 prime utr variant likely benign Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency

Variant Details
Variant Transcripts
Gene Symbol:PDP1
Accession:NM_001161781
Location:3UTRS;EXON

Gene Symbol:PDP1
Accession:XM_047421907
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:XM_047421909
Location:3UTRS;EXON

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

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

Gene Symbol:PDP1
Accession:XM_047421908
Location:3UTRS;EXON

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

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

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

Variant Samples