RGD:12791664 Rat Genome Database

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Variant: RGD:12791664 -  Homo sapiens

RGD ID: 12791664
RS ID: rs3918290
ClinVar ID: CV362495
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPYD  
Reference Nucleotide: C
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 97,915,614
GRCh38 1 97,450,058
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
LRG_722t1:c.1905+1G>C
LRG_722:g.476002G>C
NG_008807.2:g.476002G>C
NC_000001.11:g.97450058C>G
More... 		04/17/2023 splice donor variant pathogenic|likely pathogenic|drug response DPD deficiency; DPYD DEFICIENCY; Hereditary Thymine-Uraciluria; none provided; 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_001160301
Location:INTRON

Gene Symbol:DPYD
Accession:XM_017000507
Location:INTRON

Gene Symbol:DPYD
Accession:XM_047448077
Location:INTRON

Gene Symbol:DPYD
Accession:XM_047448076
Location:INTRON

Gene Symbol:DPYD
Accession:NM_000110
Location:INTRON

Gene Symbol:DPYD
Accession:XM_005270562
Location:INTRON

Gene Symbol:DPYD
Accession:XM_006710397
Location:INTRON

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

Variant Samples
Additional References at PubMed
PMID:25741868  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003123363 CLINVAR
  RCV003222484 CLINVAR
dbSNP (RS) rs3918290 CLINVAR
MedGen C1959620 CLINVAR
  C3661900 CLINVAR
NCBI Gene DPYD CLINVAR
OMIM 274270 CLINVAR
  612779 CLINVAR