Genetics University — Research, Education, Medical Genetics
Knowledge Hub

Variant (rsID / SNP)

rs141959242

PYGM

rs141959242 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to PYGM. Location: chromosome 11, position 64,521,734. Clinical significance in the table: Conflicting interpretations of pathogenicity.

ShareE-MailWhatsAppLinkedInXFacebookTelegram

Reference-table entries

PYGMConflicting interpretations
Clinical significance (as recorded)
Conflicting interpretations of pathogenicity
Variant type
single nucleotide variant
Chromosome / position
11:64521734
Cytoband
11q13.1
HGVS
NM_005609.4(PYGM):c.1083C>T (p.Asp361=)
Allele change
Synonymous_D361D

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.