NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys) AND Brachyolmia-amelogenesis imperfecta syndrome
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Apr 22, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001858040.5
Allele description [Variation Report for NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys)]
NM_001130144.3(LTBP3):c.2058C>A (p.Asn686Lys)
Condition(s)
- Name:
- Brachyolmia-amelogenesis imperfecta syndrome
- Synonyms:
- Verloes Bourguignon syndrome; Skeletal dysplasia with amelogenesis imperfecta and platyspondyly; Platyspondyly with amelogenesis imperfecta; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0011018; MedGen: C1832594; Orphanet: 2899; OMIM: 601216
Assertion and evidence details
Last Updated: Oct 13, 2024