NM_000152.5(GAA):c.743T>C (p.Leu248Pro) AND Glycogen storage disease, type II
- Germline classification:
- Likely pathogenic (4 submissions)
- Last evaluated:
- Aug 19, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001249006.6
Allele description [Variation Report for NM_000152.5(GAA):c.743T>C (p.Leu248Pro)]
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
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: Mar 30, 2024