NM_000162.5(GCK):c.540T>G (p.Asn180Lys) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 23, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002343405.3
Allele description [Variation Report for NM_000162.5(GCK):c.540T>G (p.Asn180Lys)]
NM_000162.5(GCK):c.540T>G (p.Asn180Lys)
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
-
Homo sapiens adhesion G protein-coupled receptor E5 (ADGRE5), transcript variant...
Homo sapiens adhesion G protein-coupled receptor E5 (ADGRE5), transcript variant 2, mRNAgi|1625822794|ref|NM_001784.5|Nucleotide
-
GTP pyrophosphokinase [Pseudomonas aeruginosa UCBPP-PA14]
GTP pyrophosphokinase [Pseudomonas aeruginosa UCBPP-PA14]gi|115584078|gnl|MGH|PA14_52180|gb| 093.1|Protein
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Last Updated: Sep 29, 2024