NM_000152.5(GAA):c.1458C>T (p.Ala486=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001498355.7
Allele description [Variation Report for NM_000152.5(GAA):c.1458C>T (p.Ala486=)]
NM_000152.5(GAA):c.1458C>T (p.Ala486=)
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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Microbe sample from Saccharomyces cerevisiae
Microbe sample from Saccharomyces cerevisiaebiosample
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BioSample links for Nucleotide (Select 1497470365) (1)
BioSample
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Assembly for Nucleotide (Select 1497470364) (1)
Assembly
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Assembly for Nucleotide (Select 1497470366) (1)
Assembly
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024