NM_000152.5(GAA):c.197G>A (p.Arg66Gln) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (5 submissions)
- Last evaluated:
- Jul 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000342526.18
Allele description [Variation Report for NM_000152.5(GAA):c.197G>A (p.Arg66Gln)]
NM_000152.5(GAA):c.197G>A (p.Arg66Gln)
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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RecName: Full=C-type lectin domain family 11 member A; AltName: Full=C-type lect...
RecName: Full=C-type lectin domain family 11 member A; AltName: Full=C-type lectin superfamily member 3; AltName: Full=Lymphocyte secreted C-type lectin; AltName: Full=Osteolectin; AltName: Full=Stem cell growth factor; AltName: Full=p47; Flags: Precursorgi|34223087|sp|Q9Y240.1|CLC11_HUMANProtein
-
RecName: Full=Epsin-1; AltName: Full=EH domain-binding mitotic phosphoprotein; A...
RecName: Full=Epsin-1; AltName: Full=EH domain-binding mitotic phosphoprotein; AltName: Full=EPS-15-interacting protein 1gi|332278179|sp|Q9Y6I3.2|EPN1_HUMANProtein
-
AKAP10 [Mauremys mutica]
AKAP10 [Mauremys mutica]Gene ID:123353091Gene
-
AKAP10 [Calypte anna]
AKAP10 [Calypte anna]Gene ID:103529704Gene
-
PCYB_071700 [Plasmodium cynomolgi strain B]
PCYB_071700 [Plasmodium cynomolgi strain B]Gene ID:14692016Gene
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Last Updated: Aug 25, 2024