Variant (rsID / SNP)

rs10250779

rs10250779 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PGAM2. Location: chromosome 7, position 44,104,896. Clinical significance in the table: Pathogenic.

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Reference-table entries

PGAM2Pathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 7:44104896
Cytoband: 7p13
HGVS: NM_000290.4(PGAM2):c.233G>A (p.Trp78Ter)
Allele change: Nonsense_W78X

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.