NM_000162.5(GCK):c.499T>G (p.Trp167Gly) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463814.1
Allele description [Variation Report for NM_000162.5(GCK):c.499T>G (p.Trp167Gly)]
NM_000162.5(GCK):c.499T>G (p.Trp167Gly)
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
-
Predicted glycosyl transferase [Arachnia propionica]
Predicted glycosyl transferase [Arachnia propionica]gi|1540109295|emb|VEH68928.1|Protein
-
Cyclomaltodextrinase [Arachnia propionica]
Cyclomaltodextrinase [Arachnia propionica]gi|1540109890|emb|VEH69523.1|Protein
-
Alphavirus Infections
Alphavirus InfectionsVirus diseases caused by members of the ALPHAVIRUS genus of the family TOGAVIRIDAE.<br/>Year introduced: 1994MeSH
-
Viral Vaccines
Viral VaccinesSuspensions of attenuated or killed viruses administered for the prevention or treatment of infectious viral disease.<br/>Year introduced: 1965MeSH
-
GBA3 glucosylceramidase beta 3 [Macaca mulatta]
GBA3 glucosylceramidase beta 3 [Macaca mulatta]Gene ID:715716Gene
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Last Updated: Dec 24, 2023