Variant (rsID / SNP)

rs137853204

rs137853204 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to AK1. Location: chromosome 9, position 130,635,058. Clinical significance in the table: Pathogenic.

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Reference-table entries

AK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 9:130635058
Cytoband: 9q34.11
HGVS: NM_000476.3(AK1):c.118G>A (p.Gly40Arg)
Allele change: Missense_G40R

Associated conditions / phenotypes

Hemolytic anemia due to adenylate kinase 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.