Variant (rsID / SNP)

rs199567025

rs199567025 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA2. Location: chromosome 22, position 17,684,628. Clinical significance in the table: Uncertain significance.

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Reference-table entries

ADA2Uncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 22:17684628
Cytoband: 22q11.1
HGVS: NM_001282225.2(ADA2):c.578C>T (p.Pro193Leu)
Allele change: Missense_P151Q

Associated conditions / phenotypes

Vasculitis due to ADA2 deficiency|Autoinflammatory syndrome

Public references

dbSNP
ClinVar
Ensembl
gnomAD

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