Variant (rsID / SNP)
rs201944717
rs201944717 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,251,493. Clinical significance in the table: Conflicting interpretations of pathogenicity.
Reference-table entries
ADAConflicting interpretations
- Clinical significance (as recorded)
- Conflicting interpretations of pathogenicity
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:43251493
- Cytoband
- 20q13.12
- HGVS
- NM_000022.4(ADA):c.757C>T (p.Arg253Trp)
- Allele change
- Missense_R229W
Associated conditions / phenotypes
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.