NM_004612.4(TGFBR1):c.1445G>C (p.Arg482Thr) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001799317.3
Allele description [Variation Report for NM_004612.4(TGFBR1):c.1445G>C (p.Arg482Thr)]
NM_004612.4(TGFBR1):c.1445G>C (p.Arg482Thr)
Condition(s)
Assertion and evidence details
Last Updated: Dec 24, 2023