Variant (rsID / SNP)

rs137852536

rs137852536 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGK1. Clinical significance in the table: Pathogenic.

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Reference-table entries

PGK1Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Cytoband: Xq21.1
HGVS: NM_000291.4(PGK1):c.140T>A (p.Ile47Asn)
Allele change: Missense_I47N

Associated conditions / phenotypes

Glycogen storage disease due to phosphoglycerate kinase 1 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.