NM_000545.8(HNF1A):c.327-158C>T AND Maturity onset diabetes mellitus in young
- Germline classification:
- Benign (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002472313.1
Allele description [Variation Report for NM_000545.8(HNF1A):c.327-158C>T]
NM_000545.8(HNF1A):c.327-158C>T
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[Organism] AND PHF3 AND (alive[prop]) (113)
Gene
-
GDP-mannose transporter GONST1 isoform X1 [Momordica charantia]
GDP-mannose transporter GONST1 isoform X1 [Momordica charantia]gi|1229805466|ref|XP_022156676.1|Protein
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Last Updated: Dec 24, 2023