NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu) AND Neonatal diabetes mellitus
- Germline classification:
- Likely pathogenic (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002052019.1
Allele description [Variation Report for NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)]
NM_000525.4(KCNJ11):c.754G>T (p.Val252Leu)
Condition(s)
- Name:
- Neonatal diabetes mellitus (NDM)
- Identifiers:
- MONDO: MONDO:0016391; MedGen: C0158981
Assertion and evidence details
Last Updated: Dec 24, 2023