NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter) AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763512.3
Allele description [Variation Report for NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)]
NM_003242.6(TGFBR2):c.1483C>T (p.Arg495Ter)
Condition(s)
- Name:
- Loeys-Dietz syndrome 2 (LDS2)
- Synonyms:
- Loeys-Dietz syndrome type 1B; MARFAN SYNDROME, TYPE II; Loeys-Dietz syndrome type 2B; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0012427; MedGen: C2674574; Orphanet: 558; OMIM: 610168
Assertion and evidence details
Last Updated: Sep 29, 2024