NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys) AND Congenital contractural arachnodactyly
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- May 7, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001859459.13
Allele description [Variation Report for NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)]
NM_001999.4(FBN2):c.3490C>T (p.Arg1164Cys)
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
-
PREDICTED: Ciona intestinalis guanine nucleotide-binding protein G(I)/G(S)/G(T) ...
PREDICTED: Ciona intestinalis guanine nucleotide-binding protein G(I)/G(S)/G(T) subunit beta-1 (LOC100182745), mRNAgi|1494806935|ref|XM_002127260.5|Nucleotide
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Last Updated: Oct 26, 2024