NM_000152.5(GAA):c.607C>T (p.Arg203Trp) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Mar 28, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631082.6
Allele description [Variation Report for NM_000152.5(GAA):c.607C>T (p.Arg203Trp)]
NM_000152.5(GAA):c.607C>T (p.Arg203Trp)
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
-
mastermind-like protein 2 [Homo sapiens]
mastermind-like protein 2 [Homo sapiens]gi|33286444|ref|NP_115803.1|Protein
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Last Updated: Mar 18, 2023