Variant (rsID / SNP)

rs12116440

rs12116440 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AK2. Location: chromosome 1, position 33,478,877. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

AK2Benign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 1:33478877
Cytoband: 1p35.1
HGVS: NM_001625.4(AK2):c.625G>A (p.Ala209Thr)
Allele change: Missense_A209T

Associated conditions / phenotypes

Reticular dysgenesis

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.