NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Likely risk allele (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002463714.1
Allele description [Variation Report for NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe)]
NM_000545.8(HNF1A):c.767C>T (p.Ser256Phe)
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
-
AP2 Integrase-type DNA-binding superfamily protein [Arabidopsis thaliana]
AP2 Integrase-type DNA-binding superfamily protein [Arabidopsis thaliana]Gene ID:829845Gene
-
829845[uid] AND (alive[prop]) (1)
Gene
-
GL2 HD-ZIP IV family of homeobox-leucine zipper protein with lipid-binding START...
GL2 HD-ZIP IV family of homeobox-leucine zipper protein with lipid-binding START domain-containing protein [Arabidopsis thaliana]Gene ID:844323Gene
-
844323[uid] AND (alive[prop]) (1)
Gene
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Last Updated: Jun 23, 2024