NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg) AND Familial thoracic aortic aneurysm and aortic dissection
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 10, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000654810.12
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg)]
NM_003242.6(TGFBR2):c.1163A>G (p.Lys388Arg)
Condition(s)
Assertion and evidence details
Last Updated: Oct 13, 2024