NM_000162.5(GCK):c.989T>C (p.Phe330Ser) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463723.1
Allele description [Variation Report for NM_000162.5(GCK):c.989T>C (p.Phe330Ser)]
NM_000162.5(GCK):c.989T>C (p.Phe330Ser)
Condition(s)
- Name:
- Maturity onset diabetes mellitus in young (MODY)
- Synonyms:
- Mason type diabetes
- Identifiers:
- MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904
Assertion and evidence details
Last Updated: Jul 29, 2023