ITPKC, IVS1, G/C

ITPKC, IVS1, G/C

Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Other names:
  • IVS1, G/C
Links:
OMIM: 606476.0001

Clinical significance

ITPKC, IVS1, G/C

Clinical significance:
risk factor
Review status:
(1/4)1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
1
Condition(s)
  • Kawasaki disease, susceptibility to
See supporting ClinVar records

1 Affected Gene

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Recent Activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter
(Last submitted)
Submission accession
risk factor
(Nov 21, 2011)
classified by single submitter
(literature only)
literature only
  • Kawasaki disease, susceptibility to
germlinePubMed (2)
OMIM
(Dec 30, 2010)
SCV000024672

Summary

FamiliesIndividualsSegregationAllele originEthnicityGeographic origin
not providednot providednot providedgermlinenot providednot provided

OMIM

Data published from literature

FamiliesIndividualsSegregationsAllele originCitations
not providednot providednot providedgermline

Description

In an association study involving 385 unrelated Taiwanese children with Kawasaki disease, 140 with coronary artery lesions, and 1,158 ethnically matched healthy controls, Chi et al. (2010) did not find a statistically significant association between the ITPKC gene SNP rs28493229 and Kawasaki disease or coronary artery lesions in Taiwanese children.
Onouchi et al. (2008) found a significant association between susceptibility to Kawasaki disease (611775) and a functional SNP, which the authors designated itpkc_3 (rs28493229), in the ITPKC gene. It was associated also with increase in coronary artery lesions in both Japanese and U.S. children. Among 78 affected Japanese sib pairs, 40 pairs shared more than one allele near itpkc_3; in this subset, the itpkc_3 allele was overrepresented compared to controls (OR = 2.46, 95% CI 1.63-3.73). The C allele of rs28493229 was associated with the increased risk.

Last Updated: Jun 28, 2014

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