NM_000162.5(GCK):c.1087G>A (p.Asp363Asn) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Conflicting interpretations of pathogenicity (2 submissions)
- Last evaluated:
- Mar 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002431386.4
Allele description [Variation Report for NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)]
NM_000162.5(GCK):c.1087G>A (p.Asp363Asn)
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
-
Grade 1 Small Bowel Stricture or Stenosis NOS, CTCAE
Grade 1 Small Bowel Stricture or Stenosis NOS, CTCAEMedGen
-
BioAssay by Target (List) for Gene (Select 3123) (28)
PubChem BioAssay
-
NSMCE1 NSE1 homolog, SMC5-SMC6 complex component [Homo sapiens]
NSMCE1 NSE1 homolog, SMC5-SMC6 complex component [Homo sapiens]Gene ID:197370Gene
-
Gene Links for GEO Profiles (Select 67882181) (1)
Gene
-
GSE25011[ACCN] AND gsm[ETYP] (86)
GEO DataSets
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Last Updated: May 7, 2024