NM_000162.5(GCK):c.1156del (p.Leu386fs) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- May 7, 2015
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002355448.2
Allele description [Variation Report for NM_000162.5(GCK):c.1156del (p.Leu386fs)]
NM_000162.5(GCK):c.1156del (p.Leu386fs)
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
-
high mobility group protein HMG-I/HMG-Y [Rattus norvegicus]
high mobility group protein HMG-I/HMG-Y [Rattus norvegicus]gi|21326451|ref|NP_647543.1|Protein
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Last Updated: Sep 29, 2024