NM_004612.4(TGFBR1):c.1138G>T (p.Ala380Ser) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Oct 8, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001369673.7
Allele description [Variation Report for NM_004612.4(TGFBR1):c.1138G>T (p.Ala380Ser)]
NM_004612.4(TGFBR1):c.1138G>T (p.Ala380Ser)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024