Variant (rsID / SNP)

rs119103253

rs119103253 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,518,803. 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: 11:64518803
Cytoband: 11q13.1
HGVS: NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
Allele change: Missense_E655K

Associated conditions / phenotypes

Glycogen storage disease, type V

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.