NM_001999.4(FBN2):c.3567C>T (p.His1189=) AND Congenital contractural arachnodactyly
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jun 14, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV002200447.6
Allele description [Variation Report for NM_001999.4(FBN2):c.3567C>T (p.His1189=)]
NM_001999.4(FBN2):c.3567C>T (p.His1189=)
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
-
LOC134852164 [Symsagittifera roscoffensis]
LOC134852164 [Symsagittifera roscoffensis]Gene ID:134852164Gene
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Taxonomy Links for GEO Profiles (Select 122083040) (1)
Taxonomy
-
OMIM Links for GEO Profiles (Select 72038067) (1)
OMIM
-
PMC Links for Nucleotide (Select 756761823) (3)
PMC
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024