NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) AND Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 11, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001283827.1
Allele description [Variation Report for NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)]
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter)
Condition(s)
- Name:
- Glycogen storage disease due to glucose-6-phosphatase deficiency type IA (GSD1A)
- Synonyms:
- GSD Ia; Glycogen storage disease type 1A; Von Gierke disease; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009287; MedGen: C2919796; Orphanet: 364; Orphanet: 79258; OMIM: 232200
Assertion and evidence details
Last Updated: Sep 29, 2024