NM_000152.5(GAA):c.240A>G (p.Thr80=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 30, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000916725.8
Allele description [Variation Report for NM_000152.5(GAA):c.240A>G (p.Thr80=)]
NM_000152.5(GAA):c.240A>G (p.Thr80=)
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
-
Mus musculus hairy and enhancer of split 7 (Drosophila) (Hes7), mRNA
Mus musculus hairy and enhancer of split 7 (Drosophila) (Hes7), mRNAgi|142368444|ref|NM_033041.3|Nucleotide
-
ribonuclease inhibitor [Homo sapiens]
ribonuclease inhibitor [Homo sapiens]gi|21361547|ref|NP_002930.2|Protein
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See more...Assertion and evidence details
Last Updated: May 12, 2024