NM_001999.4(FBN2):c.3973+7A>G AND Congenital contractural arachnodactyly
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 5, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003642010.1
Allele description [Variation Report for NM_001999.4(FBN2):c.3973+7A>G]
NM_001999.4(FBN2):c.3973+7A>G
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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Mus musculus small EDRK-rich factor 1, mRNA (cDNA clone MGC:41144 IMAGE:1510984)...
Mus musculus small EDRK-rich factor 1, mRNA (cDNA clone MGC:41144 IMAGE:1510984), complete cdsgi|20306999|gb|BC028510.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Feb 28, 2024