Variant (rsID / SNP)
rs121908716
rs121908716 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,251,694. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
ADAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:43251694
- Cytoband
- 20q13.12
- HGVS
- NM_000022.4(ADA):c.632G>A (p.Arg211His)
- Allele change
- Silent
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.