Variant: rs1553243550

present in Gene: PTPRC present in Chromosome: 1 Position on Chromosome: 198735253 Alleles of this Variant: G/A

rs1553243550 in PTPRC gene and Severe Combined Immunodeficiency, Autosomal Recessive, T Cell Negative, B Cell Positive, NK Cell Positive PMID 10700239 2000 Mutations in the tyrosine phosphatase CD45 gene in a child with severe combined immunodeficiency disease.