NM_000152.5(GAA):c.1004G>A (p.Gly335Glu) AND Glycogen storage disease, type II
- Germline classification:
- Pathogenic (2 submissions)
- Last evaluated:
- Jul 11, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000156939.3
Allele description [Variation Report for NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)]
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
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
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ASF1B anti-silencing function 1B histone chaperone [Homo sapiens]
ASF1B anti-silencing function 1B histone chaperone [Homo sapiens]Gene ID:55723Gene
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Gene Links for GEO Profiles (Select 77280901) (1)
Gene
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Profile neighbors for GEO Profiles (Select 77279027) (38)
GEO Profiles
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See more...Assertion and evidence details
Last Updated: Feb 20, 2024