RGD:12739580 Rat Genome Database

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Variant: RGD:12739580 -  Homo sapiens

RGD ID: 12739580
RS ID: rs1057517065
ClinVar ID: CV357176
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPYD  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 98,157,271
GRCh38 1 97,691,715
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Age of Onset Trait Synonyms
LRG_722t1:c.762+2T>C
LRG_722:g.234345T>C
NG_008807.2:g.234345T>C
NC_000001.11:g.97691715A>G
More... 		07/19/2016 splice donor variant likely pathogenic all ages DPD deficiency; DPYD DEFICIENCY; Hereditary Thymine-Uraciluria; Pyrimidinemia familial
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:DPYD
Accession:NM_000110
Location:INTRON

Gene Symbol:DPYD
Accession:XM_047448077
Location:INTRON

Gene Symbol:DPYD
Accession:NM_001160301
Location:INTRON

Gene Symbol:DPYD
Accession:XM_005270562
Location:INTRON

Gene Symbol:DPYD
Accession:XM_017000507
Location:INTRON

Gene Symbol:DPYD
Accession:XM_006710397
Location:INTRON

Gene Symbol:DPYD
Accession:XM_047448076
Location:INTRON

Gene Symbol:DPYD
Accession:XR_001737014
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV000409929 CLINVAR
dbSNP (RS) rs1057517065 CLINVAR
MedGen C1959620 CLINVAR
NCBI Gene DPYD CLINVAR
OMIM 274270 CLINVAR
  612779 CLINVAR