NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=) AND Transitory neonatal diabetes mellitus
- Germline classification:
- Uncertain significance (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002250704.1
Allele description [Variation Report for NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)]
NM_000352.6(ABCC8):c.3174C>T (p.Leu1058=)
Condition(s)
- Name:
- Transitory neonatal diabetes mellitus
- Synonyms:
- Transient neonatal diabetes mellitus
- Identifiers:
- MONDO: MONDO:0020525; MedGen: C0342273; Human Phenotype Ontology: HP:0008255
-
2<77.> (7)
BioProject
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Last Updated: Feb 20, 2024