NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser) AND Congenital contractural arachnodactyly
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Nov 1, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002006534.6
Allele description [Variation Report for NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)]
NM_001999.4(FBN2):c.3889G>A (p.Gly1297Ser)
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
-
essv16346224 (2)
dbVar
-
essv16346345 (2)
dbVar
-
essv16346470 (2)
dbVar
-
essv16346199 (2)
dbVar
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Last Updated: Sep 29, 2024