NM_000127.3(EXT1):c.-324C>G AND Multiple congenital exostosis
- Germline classification:
- Benign (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:
- RCV000352222.2
Allele description
NM_000127.3(EXT1):c.-324C>G
Condition(s)
- Name:
- Multiple congenital exostosis (EXT)
- Synonyms:
- DIAPHYSEAL ACLASIS; MULTIPLE CARTILAGINOUS EXOSTOSES; OSTEOCHONDROMATOSIS; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0005508; MedGen: C0015306; Orphanet: 321; OMIM: 133700; Human Phenotype Ontology: HP:0002762
Assertion and evidence details
Last Updated: Nov 29, 2021