Variant (rsID / SNP)

rs61756062

rs61756062 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAM2. Location: chromosome 7, position 44,104,788. Clinical significance in the table: Benign.

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Reference-table entries

PGAM2Benign

Clinical significance (as recorded): Benign
Variant type: single nucleotide variant
Chromosome / position: 7:44104788
Cytoband: 7p13
HGVS: NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)
Allele change: Missense_I114S

Associated conditions / phenotypes

Glycogen storage disease type X

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.