Variant: rs121913080 

    present in Gene: FAS
    present in Chromosome: 10
    Position on Chromosome: 89014191
    Alleles of this Variant: G/C

rs121913080 in FAS gene and Autoimmune Lymphoproliferative Syndrome PMID 10340403 1999 Defective apoptosis due to a point mutation in the death domain of CD95 associated with autoimmune lymphoproliferative syndrome, T-cell lymphoma, and Hodgkin's disease.

PMID 9322534 1997 Fas/Apo1 mutations and autoimmune lymphoproliferative syndrome in a patient with type 2 autoimmune hepatitis.

PMID 10515860 1999 Lymphoproliferative syndrome with autoimmunity: A possible genetic basis for dominant expression of the clinical manifestations.

PMID 11418480 2001 The development of lymphomas in families with autoimmune lymphoproliferative syndrome with germline Fas mutations and defective lymphocyte apoptosis.

PMID 10090885 1999 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

PMID 20935634 2010 The Fas-FADD death domain complex structure reveals the basis of DISC assembly and disease mutations.

PMID 9028957 1997 Clincal, immunologic, and genetic features of an autoimmune lymphoproliferative syndrome associated with abnormal lymphocyte apoptosis.

PMID 7540117 1995 Dominant interfering Fas gene mutations impair apoptosis in a human autoimmune lymphoproliferative syndrome.

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

PMID 9927496 1999 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

PMID 17336828 2007 Autoimmune lymphoproliferative syndrome (ALPS) in a patient with a new germline Fas gene mutation.

PMID 8929361 1996 Fas gene mutations in the Canale-Smith syndrome, an inherited lymphoproliferative disorder associated with autoimmunity.

PMID 9821419 1998 The clinical spectrum in a large kindred with autoimmune lymphoproliferative syndrome caused by a Fas mutation that impairs lymphocyte apoptosis.

rs121913080 in FAS gene and RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER PMID 9927496 1999 The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations.

PMID 10090885 1999 Autoimmune lymphoproliferative syndrome with defective Fas: genotype influences penetrance.

PMID 21490157 2011 FAS haploinsufficiency is a common disease mechanism in the human autoimmune lymphoproliferative syndrome.