NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) AND multiple conditions
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 24, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001088381.15
Allele description [Variation Report for NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)]
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly)
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: Oct 8, 2024