Variant (rsID / SNP)
rs121908715
rs121908715 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,249,032. 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
- 20:43249032
- Cytoband
- 20q13.12
- HGVS
- NM_000022.4(ADA):c.986C>T (p.Ala329Val)
- Allele change
- Missense_A305V
Associated conditions / phenotypes
Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency|Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.