NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn) AND Glycogen storage disease, type II
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 4, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003503349.1
Allele description [Variation Report for NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)]
NM_000152.5(GAA):c.1132T>A (p.Tyr378Asn)
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
-
dynein axonemal heavy chain 2 isoform 1 [Homo sapiens]
dynein axonemal heavy chain 2 isoform 1 [Homo sapiens]gi|75677365|ref|NP_065928.2|Protein
-
homeobox protein Hox-C12 [Mus musculus]
homeobox protein Hox-C12 [Mus musculus]gi|33859568|ref|NP_034593.1|Protein
-
ACOT8 [Pelodiscus sinensis]
ACOT8 [Pelodiscus sinensis]Gene ID:102459959Gene
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Last Updated: Feb 20, 2024