Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs119103252

PYGM

rs119103252 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,519,536. Clinical significance in the table: Pathogenic/Likely pathogenic.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PYGMPathogenic
Clinical significance (as recorded)
Pathogenic/Likely pathogenic
Variant type
single nucleotide variant
Chromosome / position
11:64519536
Cytoband
11q13.1
HGVS
NM_005609.4(PYGM):c.1628A>C (p.Lys543Thr)
Allele change
Missense_K543T

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.