NM_000152.5(GAA):c.2239G>T (p.Gly747Trp) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 4, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002031456.3
Allele description [Variation Report for NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)]
NM_000152.5(GAA):c.2239G>T (p.Gly747Trp)
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
-
Chain G, Transcription factor 12
Chain G, Transcription factor 12gi|514829934|pdb|4JOL|GProtein
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Last Updated: Feb 20, 2024