Variant (rsID / SNP)

rs2250242

rs2250242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AKNA. Location: chromosome 9, position 117,103,973. The table records no clinical significance for this variant.

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Reference-table entries

AKNANot classified

Variant type: missense_variant
Chromosome / position: 9:117103973
HGVS: NM_001317950.2,c.3907T>C,p.Ser1303Pro
Allele change: Missense_S1303P

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.