NM_031889.3(ENAM):c.871C>T (p.Pro291Ser) AND Amelogenesis imperfecta
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000315350.5
Allele description [Variation Report for NM_031889.3(ENAM):c.871C>T (p.Pro291Ser)]
NM_031889.3(ENAM):c.871C>T (p.Pro291Ser)
Condition(s)
- Name:
- Amelogenesis imperfecta (AI)
- Synonyms:
- Congenital enamel hypoplasia
- Identifiers:
- MONDO: MONDO:0019507; MedGen: C0002452; OMIM: PS104500; Human Phenotype Ontology: HP:0000705
Assertion and evidence details
Last Updated: Apr 9, 2023