NM_000152.5(GAA):c.258dup (p.Asn87fs) AND Glycogen storage disease, type II
- Germline classification:
- Pathogenic (7 submissions)
- Last evaluated:
- Sep 28, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000291526.21
Allele description [Variation Report for NM_000152.5(GAA):c.258dup (p.Asn87fs)]
NM_000152.5(GAA):c.258dup (p.Asn87fs)
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
-
LOC100376206 [Saccoglossus kowalevskii]
LOC100376206 [Saccoglossus kowalevskii]Gene ID:100376206Gene
-
PIK3C2B [Dryobates pubescens]
PIK3C2B [Dryobates pubescens]Gene ID:104305409Gene
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See more...Assertion and evidence details
Last Updated: Oct 13, 2024