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
-
RNF103-CHMP3 RNF103-CHMP3 readthrough [Homo sapiens]
RNF103-CHMP3 RNF103-CHMP3 readthrough [Homo sapiens]Gene ID:100526767Gene
-
disintegrin and metalloproteinase domain-containing protein 9 isoform 2 precurso...
disintegrin and metalloproteinase domain-containing protein 9 isoform 2 precursor [Mus musculus]gi|160358787|ref|NP_031430.2|Protein
-
DNA nucleotidylexotransferase [Gallus gallus]
DNA nucleotidylexotransferase [Gallus gallus]gi|45382381|ref|NP_990720.1|Protein
-
melanocyte inducing transcription factor a isoform 1 [Danio rerio]
melanocyte inducing transcription factor a isoform 1 [Danio rerio]gi|18859033|ref|NP_570998.1|Protein
-
apolipoprotein A-IV precursor [Bos taurus]
apolipoprotein A-IV precursor [Bos taurus]gi|82697389|ref|NP_001032557.1|Protein
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Last Updated: Aug 18, 2024