NM_000162.5(GCK):c.571C>T (p.Arg191Trp) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Nov 25, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002496884.3
Allele description [Variation Report for NM_000162.5(GCK):c.571C>T (p.Arg191Trp)]
NM_000162.5(GCK):c.571C>T (p.Arg191Trp)
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
- Name:
- Hyperinsulinism due to glucokinase deficiency (HHF3)
- Synonyms:
- Hyperinsulinemic hypoglycemia familial 3
- Identifiers:
- MONDO: MONDO:0011236; MedGen: C1865290; OMIM: 602485
- 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
-
Sheep Diseases
Sheep DiseasesDiseases of domestic and mountain sheep of the genus Ovis.<br/>MeSH
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Last Updated: Aug 18, 2024