NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr) AND Congenital contractural arachnodactyly
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Sep 23, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003525874.3
Allele description [Variation Report for NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)]
NM_001999.4(FBN2):c.3593G>A (p.Cys1198Tyr)
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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Homo sapiens TR2IT1 mRNA for thioredoxin reductase 2 intronic transcript 1, comp...
Homo sapiens TR2IT1 mRNA for thioredoxin reductase 2 intronic transcript 1, complete cdsgi|49614758|dbj|AB113648.1|Nucleotide
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Last Updated: Sep 29, 2024