NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met) AND Congenital contractural arachnodactyly
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Aug 13, 2017
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000633615.7
Allele description [Variation Report for NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)]
NM_001999.4(FBN2):c.3559C>A (p.Leu1187Met)
Condition(s)
- Name:
- Congenital contractural arachnodactyly (CCA)
- Synonyms:
- Beals syndrome; Arachnodactyly, contractural Beals type; Contractures, multiple with arachnodactyly; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007363; MedGen: C0220668; Orphanet: 115; OMIM: 121050
Assertion and evidence details
Last Updated: Sep 29, 2024