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Variant (rsID / SNP)

rs121908739

ADA

rs121908739 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,255,139. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

ADAPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
20:43255139
Cytoband
20q13.12
HGVS
NM_000022.4(ADA):c.320T>C (p.Leu107Pro)
Allele change
Missense_L107P

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 disease

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.