Variant (rsID / SNP)
rs121908740
rs121908740 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,251,695. 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
- 20:43251695
- Cytoband
- 20q13.12
- HGVS
- NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
- Allele change
- Silent
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.