NM_000152.5(GAA):c.2362C>A (p.Pro788Thr) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Mar 7, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001051683.4
Allele description [Variation Report for NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)]
NM_000152.5(GAA):c.2362C>A (p.Pro788Thr)
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
-
USP6 N-terminal-like protein isoform X3 [Homo sapiens]
USP6 N-terminal-like protein isoform X3 [Homo sapiens]gi|2217279529|ref|XP_047281993.1|Protein
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See more...Assertion and evidence details
Last Updated: May 1, 2024