NM_002317.7(LOX):c.743C>T (p.Thr248Ile) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jan 12, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000755143.1
Allele description [Variation Report for NM_002317.7(LOX):c.743C>T (p.Thr248Ile)]
NM_002317.7(LOX):c.743C>T (p.Thr248Ile)
Condition(s)
- Name:
- Congenital aneurysm of ascending aorta (AAT1)
- Synonyms:
- AORTIC ANEURYSM, FAMILIAL THORACIC 1; Familial aortic dissection; Annuloaortic ectasia; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0024559; MedGen: C0345050; Orphanet: 229; OMIM: 607086
- Name:
- Acute aortic dissection
- Identifiers:
- MedGen: C0241868
Assertion and evidence details
Last Updated: Dec 2, 2023