NM_000152.5(GAA):c.1616A>G (p.Glu539Gly) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003991804.2
Allele description [Variation Report for NM_000152.5(GAA):c.1616A>G (p.Glu539Gly)]
NM_000152.5(GAA):c.1616A>G (p.Glu539Gly)
Condition(s)
- Name:
- Glycogen storage disease, type II (GSD2)
- Synonyms:
- ACID ALPHA-GLUCOSIDASE DEFICIENCY; GLYCOGENOSIS, GENERALIZED, CARDIAC FORM; GSD II; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009290; MedGen: C0017921; Orphanet: 365; OMIM: 232300
Assertion and evidence details
Last Updated: Aug 4, 2024