NM_000152.5(GAA):c.2655C>T (p.Ile885=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631112.8
Allele description [Variation Report for NM_000152.5(GAA):c.2655C>T (p.Ile885=)]
NM_000152.5(GAA):c.2655C>T (p.Ile885=)
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
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RPS27 ribosomal protein S27 [Homo sapiens]
RPS27 ribosomal protein S27 [Homo sapiens]Gene ID:6232Gene
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Gene Links for GEO Profiles (Select 75805578) (1)
Gene
-
Homologene neighbors for GEO Profiles (Select 75789766) (0)
GEO Profiles
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Related Structures (List) for Protein (Select 186910302) (23)
Structure
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BioProject Links for BioSample (Select 33386026) (4)
BioProject
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Last Updated: May 1, 2024