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Variant (rsID / SNP)

rs116135678

PYGM

rs116135678 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,521,496. Clinical significance in the table: Conflicting interpretations of pathogenicity.

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Reference-table entries

PYGMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:64521496
Cytoband
11q13.1
HGVS
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
Allele change
Missense_A365V

Associated conditions / phenotypes

Glycogen storage disease, type V|Toe walking

Public references

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