NM_000158.4(GBE1):c.969T>C (p.Asp323=) AND multiple conditions
- 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:
- RCV000934171.8
Allele description [Variation Report for NM_000158.4(GBE1):c.969T>C (p.Asp323=)]
NM_000158.4(GBE1):c.969T>C (p.Asp323=)
Condition(s)
- Name:
- Glycogen storage disease, type IV (GSD4)
- Synonyms:
- GBE1 DEFICIENCY; GLYCOGENOSIS IV; GSD IV; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0009292; MedGen: C0017923; Orphanet: 367; OMIM: 232500
- Name:
- Glycogen storage disease IV, classic hepatic
- Synonyms:
- GSD IV, CLASSIC HEPATIC
- Identifiers:
- MedGen: C1856301
Assertion and evidence details
Last Updated: Sep 29, 2024