NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Jul 22, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000769633.2
Allele description [Variation Report for NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)]
NM_000138.5(FBN1):c.6049T>C (p.Cys2017Arg)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024