NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) AND Congenital contractural arachnodactyly
- Germline classification:
- Benign (4 submissions)
- Last evaluated:
- Jan 1, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000274543.22
Allele description [Variation Report for NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)]
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
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
-
eggc.vipsHs (0)
BioProject
-
Natterin-4 [Valsa mali var. pyri (nom. inval.)]
Natterin-4 [Valsa mali var. pyri (nom. inval.)]gi|972127425|gb|KUI56236.1||gnl|WGS |VP1G_03656-RAProtein
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See more...Assertion and evidence details
Last Updated: Jun 9, 2024