NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr) AND Marfan syndrome
- Germline classification:
- Uncertain significance (2 submissions)
- Last evaluated:
- Jun 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000663686.3
Allele description [Variation Report for NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)]
NM_000138.5(FBN1):c.4046G>C (p.Ser1349Thr)
Condition(s)
- Name:
- Marfan syndrome (MFS)
- Synonyms:
- MARFAN SYNDROME, TYPE I; Marfan syndrome type 1; Marfan's syndrome; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007947; MedGen: C0024796; Orphanet: 284963; Orphanet: 558; OMIM: 154700
Assertion and evidence details
Last Updated: May 7, 2024