NM_000162.5(GCK):c.374A>G (p.Tyr125Cys) AND Maturity-onset diabetes of the young type 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Sep 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002283770.1
Allele description [Variation Report for NM_000162.5(GCK):c.374A>G (p.Tyr125Cys)]
NM_000162.5(GCK):c.374A>G (p.Tyr125Cys)
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
-
platelet endothelial aggregation receptor 1 isoform a precursor [Mus musculus]
platelet endothelial aggregation receptor 1 isoform a precursor [Mus musculus]gi|74096451|ref|NP_690012.2|Protein
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Last Updated: Jul 29, 2023