Variant (rsID / SNP)

rs116987552

rs116987552 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,527,223. Clinical significance in the table: Pathogenic.

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Reference-table entries

PYGMPathogenic

Clinical significance (as recorded): Pathogenic
Variant type: single nucleotide variant
Chromosome / position: 11:64527223
Cytoband: 11q13.1
HGVS: NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
Allele change: Nonsense_R50X

Associated conditions / phenotypes

Glycogen storage disease, type V|Inborn genetic diseases|Muscular atrophy|See cases

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.