chr20:3193842:C>T Detail (hg19) (ITPA)

Information

Genome

Assembly Position
hg19 chr20:3,193,842-3,193,842
hg38 chr20:3,213,196-3,213,196 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001324236.1:c.94C>T NP_001311165.1:p.Pro32Ser
NM_001324237.1:c.94C>T NP_001311166.1:p.Pro32Ser
NM_001324240.1:c.94C>T NP_001311169.1:p.Pro32Ser
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 147520 OMIM
HGNC 6176 HGNC
Ensembl ENSG00000125877 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM6356106 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.128 Hepatitis C, Chronic ITPA gene variants protect against anaemia in patients treated for chronic hepat... GWASCAT 20173735 Detail
0.017 anemia Patients with the anemia-susceptible ITPA SNP rs1127354 genotype typically requi... BeFree 21628662 Detail
<0.001 Febrile Neutropenia Therefore, we recently studied the effects of a common polymorphism in another g... BeFree 20021291 Detail
<0.001 Anemia, severe Multivariable logistic regression analysis of possible pretreatment predictors o... BeFree 23707372 Detail
0.128 Hepatitis C, Chronic [ITPA polymorphism influences hemoglobin levels during triple therapy, particula... GAD 21246582 Detail
0.004 Leukemia, Lymphocytic, Acute, L1 The aims of this study were to (a) to determine the prevalence of seven common g... BeFree 25099492 Detail
0.031 hepatitis C Triple therapy for 12 weeks, followed by PEG-IFN and RBV for 12 weeks, was given... BeFree 21246582 Detail
0.030 hepatitis C Triple therapy for 12 weeks, followed by PEG-IFN and RBV for 12 weeks, was given... BeFree 21246582 Detail
0.017 anemia [Polymorphisms of the inosine triphosphatase (ITPA) gene influence anemia during... GAD 21246582 Detail
<0.001 Coinfection The role of rs1127354/rs7270101 alleles at the inosine triphosphatase (ITPA) gen... BeFree 22028438 Detail
0.003 anemia Genotype 1b chronic hepatitis C patients (n=132) treated with pegylated interfer... BeFree 21817190 Detail
<0.001 Febrile Neutropenia Therefore, we recently studied the effects of a common polymorphism in another g... BeFree 20021291 Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 The aims of this study were to (a) to determine the prevalence of seven common g... BeFree 25099492 Detail
0.095 Hepatitis C, Chronic Patients with genotype 1b chronic hepatitis C (n = 446) treated with peg-interfe... BeFree 23297176 Detail
0.001 HIV Infections Polymorphisms at rs1127354 in the ITPA gene influence hemoglobin levels during c... BeFree 22430973 Detail
0.127 Anemia, Hemolytic Significant association of ITPA gene rs1127354 with protection against RB V-indu... BeFree 26030972 Detail
0.017 anemia The ITPA SNP rs1127354 is a useful predictor of ribavirin-induced anemia in Taiw... BeFree 25287171 Detail
0.003 Lupus Erythematosus, Systemic Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts effi... BeFree 19129747 Detail
0.003 anemia ITPA rs1127354 is useful for the prediction of ribavirin-induced anemia in the e... BeFree 23012624 Detail
0.017 anemia [ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a g... GAD 20637204 Detail
0.120 Inosine triphosphatase deficiency DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. UNIPROT 12436200 Detail
Annotation

Annotations

DescrptionSourceLinks
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. DisGeNET Detail
Patients with the anemia-susceptible ITPA SNP rs1127354 genotype typically required ribavirin dose r... DisGeNET Detail
Therefore, we recently studied the effects of a common polymorphism in another gene encoding an enzy... DisGeNET Detail
Multivariable logistic regression analysis of possible pretreatment predictors of the development of... DisGeNET Detail
[ITPA polymorphism influences hemoglobin levels during triple therapy, particularly during the first... DisGeNET Detail
The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms... DisGeNET Detail
Triple therapy for 12 weeks, followed by PEG-IFN and RBV for 12 weeks, was given to 49 patients with... DisGeNET Detail
Triple therapy for 12 weeks, followed by PEG-IFN and RBV for 12 weeks, was given to 49 patients with... DisGeNET Detail
[Polymorphisms of the inosine triphosphatase (ITPA) gene influence anemia during pegylated interfero... DisGeNET Detail
The role of rs1127354/rs7270101 alleles at the inosine triphosphatase (ITPA) gene on ribavirin-induc... DisGeNET Detail
Genotype 1b chronic hepatitis C patients (n=132) treated with pegylated interferon (PEG-IFN)-α and R... DisGeNET Detail
Therefore, we recently studied the effects of a common polymorphism in another gene encoding an enzy... DisGeNET Detail
The aims of this study were to (a) to determine the prevalence of seven common genetic polymorphisms... DisGeNET Detail
Patients with genotype 1b chronic hepatitis C (n = 446) treated with peg-interferon alpha and ribavi... DisGeNET Detail
Polymorphisms at rs1127354 in the ITPA gene influence hemoglobin levels during combination HCV thera... DisGeNET Detail
Significant association of ITPA gene rs1127354 with protection against RB V-induced hemolytic anemia... DisGeNET Detail
The ITPA SNP rs1127354 is a useful predictor of ribavirin-induced anemia in Taiwanese patients and m... DisGeNET Detail
Pro32Thr polymorphism of inosine triphosphate pyrophosphatase gene predicts efficacy of low-dose aza... DisGeNET Detail
ITPA rs1127354 is useful for the prediction of ribavirin-induced anemia in the early phase after the... DisGeNET Detail
[ITPA polymorphism affects ribavirin-induced anemia and outcomes of therapy--a genome-wide study of ... DisGeNET Detail
DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1127354 dbSNP
Genome
hg19
Position
chr20:3,193,842-3,193,842
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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