Variant: rs1561299903 

    present in Gene: PIK3R1
    present in Chromosome: 5
    Position on Chromosome: 68295287
    Alleles of this Variant: -/T

rs1561299903 in PIK3R1 gene and AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

rs1561299903 in PIK3R1 gene and IMMUNODEFICIENCY 36 PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.

rs1561299903 in PIK3R1 gene and SHORT syndrome PMID 23810382 2013 Mutations in PIK3R1 cause SHORT syndrome.

PMID 23810378 2013 PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

PMID 24886349 2014 Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome.