Variant: rs121908735 

    present in Gene: ADA
    present in Chromosome: 20
    Position on Chromosome: 44625581
    Alleles of this Variant: G/A

rs121908735 in ADA gene and SCID Due to ADA Deficiency, Early-Onset PMID 6208479 1984 Structure of adenosine deaminase mRNAs from normal and adenosine deaminase-deficient human cell lines.

PMID 2783588 1989 Identification of a point mutation resulting in a heat-labile adenosine deaminase (ADA) in two unrelated children with partial ADA deficiency.

PMID 3182793 1988 Mutant human adenosine deaminase alleles and their expression by transfection into fibroblasts.

PMID 8227344 1993 Novel splicing, missense, and deletion mutations in seven adenosine deaminase-deficient patients with late/delayed onset of combined immunodeficiency disease. Contribution of genotype to phenotype.

PMID 3839802 1985 Identification of a point mutation in the adenosine deaminase gene responsible for immunodeficiency.

PMID 7599635 1995 Four new adenosine deaminase mutations, altering a zinc-binding histidine, two conserved alanines, and a 5' splice site.

PMID 27129325 2016 Update on the safety and efficacy of retroviral gene therapy for immunodeficiency due to adenosine deaminase deficiency.

PMID 1284479 1992 Identification of two new missense mutations (R156C and S291L) in two ADA- SCID patients unusual for response to therapy with partial exchange transfusions.

PMID 9361033 1997 An adenosine deaminase (ADA) allele contains two newly identified deleterious mutations (Y97C and L106V) that interact to abolish enzyme activity.

PMID 8299233 1994 Homozygosity for a missense mutation (G20R) associated with neonatal onset adenosine deaminase-deficient severe combined immunodeficiency (ADA-SCID).

PMID 2166947 1990 Hot spot mutations in adenosine deaminase deficiency.

PMID 10200056 1998 Seven novel mutations in the adenosine deaminase (ADA) gene in patients with severe and delayed onset combined immunodeficiency: G74C, V129M, G140E, R149W, Q199P, 462delG, and E337del. Mutations in brief no. 142. Online.

PMID 26255240 2015 Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.

PMID 26376800 2015 Diagnosis, Treatment and Long-Term Follow Up of Patients with ADA Deficiency: a Single-Center Experience.

rs121908735 in ADA gene and Severe Combined Immunodeficiency PMID 22447032 2012 Delayed onset adenosine deaminase deficiency associated with acute disseminated encephalomyelitis.

PMID 9758612 1998 Adenosine deaminase deficiency: genotype-phenotype correlations based on expressed activity of 29 mutant alleles.

PMID 26255240 2015 Spectrum of mutations in a cohort of UK patients with ADA deficient SCID: Segregation of genotypes with specific ethnicities.