NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His) AND Loeys-Dietz syndrome
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Aug 29, 2014
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000211858.5
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)]
NM_003242.6(TGFBR2):c.1583G>A (p.Arg528His)
Condition(s)
Assertion and evidence details
Last Updated: Sep 29, 2024