NM_001032283.3(TMPO):c.248C>T (p.Ala83Val) AND Loeys-Dietz syndrome 2
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 2, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000645708.7
Allele description [Variation Report for NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)]
NM_001032283.3(TMPO):c.248C>T (p.Ala83Val)
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: Oct 20, 2024