NM_000158.4(GBE1):c.118C>A (p.Pro40Thr) AND Glycogen storage disease, type IV
- Germline classification:
- Benign/Likely benign (4 submissions)
- Last evaluated:
- Oct 29, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000665935.10
Allele description [Variation Report for NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)]
NM_000158.4(GBE1):c.118C>A (p.Pro40Thr)
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
Assertion and evidence details
Last Updated: Aug 4, 2024