NM_000138.5(FBN1):c.4643C>G (p.Ala1548Gly) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 16, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001805579.2
Allele description [Variation Report for NM_000138.5(FBN1):c.4643C>G (p.Ala1548Gly)]
NM_000138.5(FBN1):c.4643C>G (p.Ala1548Gly)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023