RGD:13498433 Rat Genome Database

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Variant: RGD:13498433 -  Homo sapiens

RGD ID: 13498433
RS ID: rs142574480
ClinVar ID: CV470868
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ITPA  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 20 3,193,872
GRCh38 20 3,213,226
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001324236.2:c.-274-32C>T
NM_001324238.2:c.-274-32C>T
NM_001351739.2:c.-274-32C>T
NM_001324240.2:c.124C>T
More... 		09/01/2021 5 prime utr variant|intron variant likely benign Developmental and epileptic encephalopathy, 35; Epileptic encephalopathy, early infantile, 35; INOSINE TRIPHOSPHATE PYROPHOSPHOHYDROLASE DEFICIENCY; none provided
Disease Annotations     Click to see Annotation Detail View


Variant Details
Variant Transcripts
Gene Symbol:ITPA
Accession:NM_001324236
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_001324238
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_001351739
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_001324237
Location:5UTRS;INTRON

Gene Symbol:ITPA
Accession:NM_001267623
Location:INTRON

Gene Symbol:ITPA
Accession:XM_047440139
Location:INTRON

Gene Symbol:ITPA
Accession:NM_033453
Location:INTRON

Gene Symbol:ITPA
Accession:NM_001324240
Location:INTRON

Gene Symbol:ITPA
Accession:NM_181493
Location:INTRON

Gene Symbol:ITPA
Accession:NM_001424408
Location:INTRON

Gene Symbol:ITPA
Accession:NM_001424409
Location:INTRON

Gene Symbol:ITPA
Accession:XM_006723565
Location:INTRON

Gene Symbol:ITPA
Accession:XM_011529234
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:
Accession:
Location:INTRON

Gene Symbol:ITPA
Accession:NR_052002
Location:INTRON;NON-CODING

Gene Symbol:ITPA
Accession:NR_052000
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000528838 CLINVAR
  RCV001726224 CLINVAR
  RCV002491013 CLINVAR
dbSNP (RS) rs142574480 CLINVAR
MedGen C0342800 CLINVAR
  C3661900 CLINVAR
NCBI Gene ITPA CLINVAR
OMIM 147520 CLINVAR
  613850 CLINVAR
  616647 CLINVAR