NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg) AND Congenital contractural arachnodactyly
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Nov 28, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003525557.2
Allele description
NM_001999.4(FBN2):c.4177T>C (p.Cys1393Arg)
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
-
kin of IRRE-like protein 3 isoform X1 [Epinephelus lanceolatus]
kin of IRRE-like protein 3 isoform X1 [Epinephelus lanceolatus]gi|1832701675|ref|XP_033487440.1|Protein
-
fws [Polistes canadensis]
fws [Polistes canadensis]Gene ID:106783589Gene
-
LOC109330273 [Lupinus angustifolius]
LOC109330273 [Lupinus angustifolius]Gene ID:109330273Gene
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See more...Assertion and evidence details
Last Updated: Jun 23, 2024