NM_000152.5(GAA):c.1539C>T (p.Asp513=) AND Glycogen storage disease, type II
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001423839.7
Allele description [Variation Report for NM_000152.5(GAA):c.1539C>T (p.Asp513=)]
NM_000152.5(GAA):c.1539C>T (p.Asp513=)
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
-
fatty acid desaturase 1 [Homo sapiens]
fatty acid desaturase 1 [Homo sapiens]gi|11181775|ref|NP_037534.2|Protein
-
17000600069567 GRN_PREHEP Homo sapiens cDNA 5', mRNA sequence
17000600069567 GRN_PREHEP Homo sapiens cDNA 5', mRNA sequencegi|47291737|gnl|dbEST|22436462|gb|C 23.1|Nucleotide
-
Rattus norvegicus TL0AEA56YF22 mRNA sequence
Rattus norvegicus TL0AEA56YF22 mRNA sequencegi|298902283|emb|FQ235128.1|Nucleotide
-
HS6ST2 [Callithrix jacchus]
HS6ST2 [Callithrix jacchus]Gene ID:100398118Gene
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Last Updated: Sep 29, 2024