NM_000152.5(GAA):c.642C>T (p.Ser214=) AND Glycogen storage disease, type II
- Germline classification:
- Benign (6 submissions)
- Last evaluated:
- Feb 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000330247.18
Allele description [Variation Report for NM_000152.5(GAA):c.642C>T (p.Ser214=)]
NM_000152.5(GAA):c.642C>T (p.Ser214=)
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
-
Laetiporus sulphureus 95-53 gene expression - Laesu-Pine-5D-1
Laetiporus sulphureus 95-53 gene expression - Laesu-Pine-5D-1biosample
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024