NM_000162.5(GCK):c.1364T>A (p.Val455Glu) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 27, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002469275.2
Allele description [Variation Report for NM_000162.5(GCK):c.1364T>A (p.Val455Glu)]
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
Condition(s)
- Name:
- Maturity-onset diabetes of the young type 2
- Synonyms:
- MODY type 2; Diabetes mellitus MODY type 2; MODY glucokinase-related; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007453; MedGen: C0342277; Orphanet: 552; OMIM: 125851
-
652660[uid] (1)
Taxonomy
-
Vismia[All Fields] (5)
MeSH
-
PREDICTED: Felis catus CD5 molecule (CD5), mRNA
PREDICTED: Felis catus CD5 molecule (CD5), mRNAgi|2131029679|ref|XM_006937372.4|Nucleotide
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Last Updated: Sep 29, 2024