NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro) AND Congenital contractural arachnodactyly
- Germline classification:
- 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:
- RCV002586191.2
Allele description [Variation Report for NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)]
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
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
-
LOC119185027 [Rhipicephalus microplus]
LOC119185027 [Rhipicephalus microplus]Gene ID:119185027Gene
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024