Variant: rs132630273 

    present in Gene: WAS
    present in Chromosome: X
    Position on Chromosome: 48684284
    Alleles of this Variant: C/T

rs132630273 in WAS gene and THROMBOCYTOPENIA 1 (disorder) PMID 7795648 1995 X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.

PMID 8528199 1995 WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

PMID 10447259 1999 Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

PMID 11877312 2002 Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.

PMID 11167787 2001 Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.

rs132630273 in WAS gene and Thrombocytopenia PMID 31064749 2019 Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.

rs132630273 in WAS gene and Wiskott-Aldrich Syndrome PMID 9098856 1997 Mutation analysis of five Japanese families with Wiskott-Aldrich syndrome and determination of the family members' carrier status using three different methods.

PMID 8682510 1996 Wiskott-Aldrich syndrome: no strict genotype-phenotype correlations but clustering of missense mutations in the amino-terminal part of the WASP gene product.

PMID 9126958 1997 Variable expression of WASP in B cell lines of Wiskott-Aldrich syndrome patients.

PMID 8528198 1995 Identification of WASP mutations in patients with Wiskott-Aldrich syndrome and isolated thrombocytopenia reveals allelic heterogeneity at the WAS locus.

PMID 20574068 2010 Nuclear role of WASp in the pathogenesis of dysregulated TH1 immunity in human Wiskott-Aldrich syndrome.

PMID 9445409 1998 X-linked Wiskott-Aldrich syndrome in a girl.

PMID 9713366 1998 Defective actin polymerization in EBV-transformed B-cell lines from patients with the Wiskott-Aldrich syndrome.

PMID 7753869 1995 Identification of mutations in the Wiskott-Aldrich syndrome gene and characterization of a polymorphic dinucleotide repeat at DXS6940, adjacent to the disease gene.

PMID 8528199 1995 WASP gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia.

PMID 10447259 1999 Novel mutations in the Wiskott-Aldrich syndrome protein gene and their effects on transcriptional, translational, and clinical phenotypes.

PMID 9683546 1998 Absence of expression of the Wiskott-Aldrich syndrome protein in peripheral blood cells of Wiskott-Aldrich syndrome patients.

PMID 11793485 2002 Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.