NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) AND Maturity onset diabetes mellitus in young
- Germline classification:
- Benign (1 submission)
- Last evaluated:
- Sep 18, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002381270.9
Allele description [Variation Report for NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)]
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
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
Assertion and evidence details
Last Updated: Aug 18, 2024