Variant (rsID / SNP)

rs121918194

rs121918194 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PFKM. Location: chromosome 12, position 48,535,824. Clinical significance in the table: Pathogenic.

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Reference-table entries

PFKMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 12:48535824
Cytoband: 12q13.11
HGVS: NM_000289.6(PFKM):c.1628A>C (p.Asp543Ala)
Allele change: Missense_D493A

Associated conditions / phenotypes

Glycogen storage disease, type VII

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.