NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter) AND Connective tissue disorder
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 1, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000680613.2
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)]
NM_003242.6(TGFBR2):c.1489C>T (p.Arg497Ter)
Condition(s)
- Name:
- Connective tissue disorder
- Synonyms:
- Connective tissue disease
- Identifiers:
- MONDO: MONDO:0003900; MedGen: C0009782
Assertion and evidence details
Last Updated: May 1, 2024