NM_000152.5(GAA):c.1049T>C (p.Val350Ala) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 8, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002015848.3
Allele description [Variation Report for NM_000152.5(GAA):c.1049T>C (p.Val350Ala)]
NM_000152.5(GAA):c.1049T>C (p.Val350Ala)
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: Sep 29, 2024