NM_000152.5(GAA):c.794G>A (p.Ser265Asn) AND Glycogen storage disease, type II
- Germline classification:
- Conflicting interpretations of pathogenicity (5 submissions)
- Last evaluated:
- Apr 19, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000631094.12
Allele description [Variation Report for NM_000152.5(GAA):c.794G>A (p.Ser265Asn)]
NM_000152.5(GAA):c.794G>A (p.Ser265Asn)
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
-
LOC4344380 [Oryza sativa Japonica Group]
LOC4344380 [Oryza sativa Japonica Group]Gene ID:4344380Gene
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024