NM_000162.5(GCK):c.1154G>A (p.Gly385Glu) AND Type 2 diabetes mellitus
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jan 1, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001262180.3
Allele description [Variation Report for NM_000162.5(GCK):c.1154G>A (p.Gly385Glu)]
NM_000162.5(GCK):c.1154G>A (p.Gly385Glu)
Condition(s)
- Name:
- Type 2 diabetes mellitus
- Synonyms:
- DIABETES MELLITUS, TYPE 2, PROTECTION AGAINST; Type II diabetes mellitus; Diabetes mellitus, noninsulin-dependent, late onset
- Identifiers:
- MONDO: MONDO:0005148; MeSH: D003924; MedGen: C0011860; OMIM: 125853; Human Phenotype Ontology: HP:0005978
-
RecName: Full=Ovoinhibitor; Flags: Precursor
RecName: Full=Ovoinhibitor; Flags: Precursorgi|1708509|sp|P10184.2|IOV7_CHICKProtein
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Last Updated: Jul 29, 2024