NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463728.1
Allele description [Variation Report for NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)]
NM_000162.5(GCK):c.1054del (p.Ile351_Leu352insTer)
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: May 7, 2024