NM_000545.8(HNF1A):c.441C>A (p.His147Gln) AND Maturity-onset diabetes of the young type 3
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 18, 2011
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000030502.3
Allele description [Variation Report for NM_000545.8(HNF1A):c.441C>A (p.His147Gln)]
NM_000545.8(HNF1A):c.441C>A (p.His147Gln)
Condition(s)
- Name:
- Maturity-onset diabetes of the young type 3
- Synonyms:
- Diabetes mellitus MODY type 3; MODY hepatocyte nuclear factor-1-alpha related; MODY type 3; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0010894; MedGen: C1838100; Orphanet: 552; OMIM: 600496
Assertion and evidence details
Last Updated: Jun 23, 2024