NM_000162.5(GCK):c.535A>G (p.Asn179Asp) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 7, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002347008.2
Allele description [Variation Report for NM_000162.5(GCK):c.535A>G (p.Asn179Asp)]
NM_000162.5(GCK):c.535A>G (p.Asn179Asp)
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
-
treZ [Arachnia propionica]
treZ [Arachnia propionica]Gene ID:64405615Gene
-
WALSEDRAFT_66236 [Wallemia mellicola CBS 633.66]
WALSEDRAFT_66236 [Wallemia mellicola CBS 633.66]Gene ID:18475099Gene
-
Databases as Topic
Databases as TopicWorks on organized collections of records, standardized in format and content, that are stored in any of a variety of computer-readable modes.<br/>Year introduced: 2008(1998)MeSH
-
HEK293 Cells
HEK293 CellsA cell line generated from human embryonic kidney cells that were transformed with human adenovirus type 5.<br/>Year introduced: 2011MeSH
-
Ion Transport
Ion TransportThe movement of ions across energy-transducing cell membranes. Transport can be active, passive or facilitated. Ions may travel by themselves (uniport), or as a group of two o...<br/>Year introduced: 1993MeSH
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Last Updated: May 1, 2024