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Variant (rsID / SNP)

rs267606634

ADA

rs267606634 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA. Location: chromosome 20, position 43,255,169. Clinical significance in the table: no interpretation for the single variant.

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Reference-table entries

ADAOther
Clinical significance (as recorded)
no interpretation for the single variant
Variant type
single nucleotide variant
Chromosome / position
20:43255169
Cytoband
20q13.12
HGVS
NM_000022.4(ADA):c.290A>G (p.Tyr97Cys)
Allele change
Missense_Y97C

Associated conditions / phenotypes

Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due to Adenosine Deaminase Deficiency|Adenosine Deaminase Deficiency

Public references

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