NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu) AND Congenital contractural arachnodactyly
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Aug 10, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001317536.6
Allele description [Variation Report for NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)]
NM_001999.4(FBN2):c.3908C>T (p.Pro1303Leu)
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
-
3530_1_83_1_A05.x_1 3530 - Full length cDNA library created by Invitrogen from m...
3530_1_83_1_A05.x_1 3530 - Full length cDNA library created by Invitrogen from multiple tissues Zea mays cDNA, mRNA sequencegi|37424948|gnl|dbEST|19975510|gb|C 08.1|Nucleotide
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Last Updated: Feb 28, 2024