NM_001999.4(FBN2):c.4302T>C (p.Cys1434=) AND Congenital contractural arachnodactyly
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 27, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001452716.8
Allele description
NM_001999.4(FBN2):c.4302T>C (p.Cys1434=)
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
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PREDICTED: Mus musculus tudor domain containing 1 (Tdrd1), transcript variant X2...
PREDICTED: Mus musculus tudor domain containing 1 (Tdrd1), transcript variant X2, mRNAgi|569008093|ref|XM_006527474.1|Nucleotide
-
type IV secretion system protein VirB10 (plasmid) [Agrobacterium fabrum]
type IV secretion system protein VirB10 (plasmid) [Agrobacterium fabrum]gi|2562480715|gnl|PRJNA1002103|Q8X4 10|gb|WLP57850.1|Protein
-
JGI_CAAN11919.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11919 3', mR...
JGI_CAAN11919.rev NIH_XGC_tropTe4 Xenopus tropicalis cDNA clone CAAN11919 3', mRNA sequencegi|71932574|gnl|dbEST|30596966|gb|C 74.2|Nucleotide
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Last Updated: Feb 20, 2024