Variant: rs1554852244 

    present in Gene: FAS
    present in Chromosome: 10
    Position on Chromosome: 89014158
    Alleles of this Variant: -/CATG

rs1554852244 in FAS gene and Muscle hypotonia PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.

PMID 21885602 2011 A survey of 90 patients with autoimmune lymphoproliferative syndrome related to TNFRSF6 mutation.

PMID 20360470 2010 Somatic FAS mutations are common in patients with genetically undefined autoimmune lymphoproliferative syndrome.

PMID 25086580 2014 Autoimmune lymphoproliferative syndrome: an update and review of the literature.

PMID 9028321 1997 Missense mutations in the Fas gene resulting in autoimmune lymphoproliferative syndrome: a molecular and immunological analysis.

PMID 7539157 1995 Mutations in Fas associated with human lymphoproliferative syndrome and autoimmunity.

PMID 27060458 2016 Differential regulation of miR-146a/FAS and miR-21/FASLG axes in autoimmune lymphoproliferative syndrome due to FAS mutation (ALPS-FAS).

PMID 24398331 2014 Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations.

PMID 10709732 2000 Autoimmune lymphoproliferative syndrome (ALPS) in a child from consanguineous parents: a dominant or recessive disease?