Variant (rsID / SNP)

rs141570669

rs141570669 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PFKM. Location: chromosome 12, position 48,539,349. Clinical significance in the table: Uncertain significance.

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Reference-table entries

PFKMUncertain significance

Clinical significance (as recorded): Uncertain significance
Variant type: single nucleotide variant
Chromosome / position: 12:48539349
Cytoband: 12q13.11
HGVS: NM_000289.6(PFKM):c.2201A>G (p.His734Arg)
Allele change: Missense_H684R

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.