present in Gene: ADA
present in Chromosome: 20
Position on Chromosome: 44651601
Alleles of this Variant: G/A
rs1057520217 in
ADA gene and
SCID Due to ADA Deficiency, Early-Onset
PMID 8589684 1995 Three new adenosine deaminase mutations that define a splicing enhancer and cause severe and partial phenotypes: implications for evolution of a CpG hotspot and expression of a transduced ADA cDNA.
PMID 25954555 2012 Atypical Omenn Syndrome due to Adenosine Deaminase Deficiency.
PMID 25875700 2015 Adenosine deaminase deficient severe combined immunodeficiency presenting as atypical haemolytic uraemic syndrome.