Variant (rsID / SNP)

rs41291971

rs41291971 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PFKM. Location: chromosome 12, position 48,538,908. Clinical significance in the table: Benign/Likely benign.

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Reference-table entries

PFKMBenign

Clinical significance (as recorded): Benign/Likely benign
Variant type: single nucleotide variant
Chromosome / position: 12:48538908
Cytoband: 12q13.11
HGVS: NM_000289.6(PFKM):c.2087G>A (p.Arg696His)
Allele change: Missense_R646H

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.