NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln) AND Maturity-onset diabetes of the young type 1
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Aug 2, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002285560.2
Allele description [Variation Report for NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)]
NM_175914.5(HNF4A):c.469A>C (p.Lys157Gln)
Condition(s)
- Name:
- Maturity-onset diabetes of the young type 1
- Synonyms:
- MILD JUVENILE DIABETES MELLITUS; MODY type 1; Diabetes mellitus MODY type 1; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007452; MedGen: C1852093; Orphanet: 552; OMIM: 125850
Assertion and evidence details
Last Updated: Nov 29, 2022