RGD:11650501 Rat Genome Database

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Variant: RGD:11650501 -  Homo sapiens

RGD ID: 11650501
RS ID: rs886063184
ClinVar ID: CV310057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: PDP1  
Reference Nucleotide: -
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 8 94,937,550
GRCh38 8 93,925,322
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.13389_13390insG
NC_000008.11:g.93925322_93925323insG
NC_000008.10:g.94937550_94937551insG
NM_018444.3:c.*1649_*1650insG
More... 		06/14/2016 3 prime utr variant uncertain significance Lactic acidemia with pyruvate dehydrogenase phosphatase deficiency
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:PDP1
Accession:NM_001161780
Location:3UTRS;EXON

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

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

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

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

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

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

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

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

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000293390 CLINVAR
dbSNP (RS) rs886063184 CLINVAR
MedGen C1837429 CLINVAR
NCBI Gene PDP1 CLINVAR
OMIM 605993 CLINVAR
  608782 CLINVAR