Variant (rsID / SNP)
rs121908736
rs121908736 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,255,233. Clinical significance in the table: Uncertain significance.
Reference-table entries
ADAUncertain significance
- Clinical significance (as recorded)
- Uncertain significance
- Variant type
- single nucleotide variant
- Chromosome / position
- 20:43255233
- Cytoband
- 20q13.12
- HGVS
- NM_000022.4(ADA):c.226C>T (p.Arg76Trp)
- Allele change
- Missense_R76W
Associated conditions / phenotypes
Partial adenosine deaminase deficiency|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.