Variant: rs132630268 

    present in Gene: WAS
    present in Chromosome: X
    Position on Chromosome: 48684407
    Alleles of this Variant: G/A;C;T

rs132630268 in WAS gene and Neutropenia, Severe Congenital, X-Linked PMID 10202051 1999 Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

PMID 17213309 2007 WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

PMID 23033889 2013 Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

PMID 19817875 2009 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

PMID 15284122 2004 Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

PMID 12969986 2004 Clinical course of patients with WASP gene mutations.

PMID 22523910 2012 Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.

PMID 20959042 2010 [WASP gene mutation analysis of a family of X-linked thrombocytopenia].

PMID 9326235 1997 Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

rs132630268 in WAS gene and THROMBOCYTOPENIA 1 (disorder) PMID 17213309 2007 WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

PMID 9326235 1997 Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

PMID 12969986 2004 Clinical course of patients with WASP gene mutations.

PMID 19817875 2009 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

PMID 15284122 2004 Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.

PMID 20959042 2010 [WASP gene mutation analysis of a family of X-linked thrombocytopenia].

PMID 10202051 1999 Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

PMID 23033889 2013 Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

PMID 22523910 2012 Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.

rs132630268 in WAS gene and Wiskott-Aldrich Syndrome PMID 12969986 2004 Clinical course of patients with WASP gene mutations.

PMID 10202051 1999 Mutations that cause the Wiskott-Aldrich syndrome impair the interaction of Wiskott-Aldrich syndrome protein (WASP) with WASP interacting protein.

PMID 17390083 2007 Two novel mutations identified in the Wiskott-Aldrich syndrome protein gene cause Wiskott-Aldrich syndrome and thrombocytopenia.

PMID 16638962 2006 Prenatal diagnosis of the WAS R86H sequence variation in heterozygous twins.

PMID 23033889 2013 Clinical and molecular characterization of Thai patients with Wiskott-Aldrich syndrome.

PMID 12437929 2002 Structure of the N-WASP EVH1 domain-WIP complex: insight into the molecular basis of Wiskott-Aldrich Syndrome.

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

PMID 17213309 2007 WIP is a chaperone for Wiskott-Aldrich syndrome protein (WASP).

PMID 21185603 2011 Genetic characteristics of eighty-seven patients with the Wiskott-Aldrich syndrome.

PMID 8069912 1994 Isolation of a novel gene mutated in Wiskott-Aldrich syndrome.

PMID 20959042 2010 [WASP gene mutation analysis of a family of X-linked thrombocytopenia].

PMID 9326235 1997 Wiskott-Aldrich syndrome/X-linked thrombocytopenia: WASP gene mutations, protein expression, and phenotype.

PMID 18162713 2007 A familial case of Wiskott-Aldrich Syndrome with a hotspot mutation in exon 2 of the WAS Gene.

PMID 14612666 2003 WASP (Wiskott-Aldrich syndrome protein) gene mutations and phenotype.

PMID 22523910 2012 Clinical profile and genetic basis of Wiskott-Aldrich syndrome at Chandigarh, North India.

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 19817875 2009 Characterization of Wiskott-Aldrich syndrome (WAS) mutants using Saccharomyces cerevisiae.

PMID 15284122 2004 Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation.