Variant (rsID / SNP)

rs61744537

rs61744537 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to ADA2. Location: chromosome 22, position 17,662,767. 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: 22:17662767
Cytoband: 22q11.1
HGVS: NM_001282225.2(ADA2):c.1385T>C (p.Ile462Thr)
Allele change: Missense_I420T

Associated conditions / phenotypes

Vasculitis due to ADA2 deficiency

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.