NM_000162.5(GCK):c.1113C>A (p.Cys371Ter) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 25, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000754805.2
Allele description [Variation Report for NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)]
NM_000162.5(GCK):c.1113C>A (p.Cys371Ter)
Condition(s)
- Name:
- Maturity-onset diabetes of the young type 2
- Synonyms:
- MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851
Assertion and evidence details
Last Updated: May 7, 2024