Variant (rsID / SNP)

rs137852530

rs137852530 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGK1. Clinical significance in the table: other.

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Reference-table entries

PGK1Other

Clinical significance (as recorded): other
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000291.4(PGK1):c.1055C>A (p.Thr352Asn)
Allele change: Missense_T352N

Associated conditions / phenotypes

Phosphoglycerate kinase electrophoretic variant PGK II

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.