NM_000162.5(GCK):c.1175G>T (p.Arg392Leu) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely risk allele (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463595.2
Allele description [Variation Report for NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)]
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)
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
-
Taxonomy Links for GEO Profiles (Select 109419820) (1)
Taxonomy
-
BioAssays, RNAi Target, Tested for Gene (Select 96610) (2)
PubChem BioAssay
-
glcT [Bacillus subtilis subsp. subtilis str. 168]
glcT [Bacillus subtilis subsp. subtilis str. 168]Gene ID:939254Gene
-
Gene Links for GEO Profiles (Select 129965101) (1)
Gene
-
YPEL1 yippee like 1 [Homo sapiens]
YPEL1 yippee like 1 [Homo sapiens]Gene ID:29799Gene
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See more...Assertion and evidence details
Last Updated: Oct 7, 2023