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Variant (rsID / SNP)

rs119103258

PYGM

rs119103258 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,514,268. Clinical significance in the table: Pathogenic/Likely pathogenic.

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Reference-table entries

PYGMPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:64514268
Cytoband
11q13.1
HGVS
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg)
Allele change
Missense_W798R

Associated conditions / phenotypes

Glycogen storage disease, type V

Public references

Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.