Variant (rsID / SNP)
rs121908728
rs121908728 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,254,234. 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
- 20:43254234
- Cytoband
- 20q13.12
- HGVS
- NM_000022.4(ADA):c.454C>A (p.Leu152Met)
- Allele change
- Missense_L152M
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|Severe combined immunodeficiency disease
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.