RGD:8646500 Rat Genome Database

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Variant: RGD:8646500 -  Homo sapiens

RGD ID: 8646500
RS ID: rs199469537
ClinVar ID: CV105973
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: DPYD  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 1 98,015,100
GRCh38 1 97,549,544
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NG_008807.2:g.376516C>A
NC_000001.11:g.97549544G>T
NC_000001.9:g.97787688G>T
NC_000001.10:g.98015100G>T
More... 		04/11/2023 intron variant likely benign|not provided AllHighlyPenetrant; 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_000110
Location:INTRON

Gene Symbol:DPYD
Accession:XM_047448076
Location:INTRON

Gene Symbol:DPYD
Accession:XM_005270562
Location:INTRON

Gene Symbol:DPYD
Accession:XM_006710397
Location:INTRON

Gene Symbol:DPYD
Accession:XM_017000507
Location:INTRON

Gene Symbol:DPYD
Accession:NM_001160301
Location:INTRON

Gene Symbol:DPYD
Accession:XM_047448077
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 RCV000086479 CLINVAR
  RCV000244377 CLINVAR
  RCV000668834 CLINVAR
dbSNP (RS) rs199469537 CLINVAR
MedGen C1959620 CLINVAR
  C3661900 CLINVAR
  CN169374 CLINVAR
NCBI Gene DPYD CLINVAR
OMIM 274270 CLINVAR
  612779 CLINVAR