NM_000152.5(GAA):c.2495C>T (p.Thr832Ile) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 30, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000538081.9
Allele description [Variation Report for NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)]
NM_000152.5(GAA):c.2495C>T (p.Thr832Ile)
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
-
PREDICTED: Mus musculus CXXC finger 5 (Cxxc5), transcript variant X4, mRNA
PREDICTED: Mus musculus CXXC finger 5 (Cxxc5), transcript variant X4, mRNAgi|1907130629|ref|XM_006526181.5|Nucleotide
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Last Updated: Sep 29, 2024