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 zinc finger E-box binding homeobox 2 (Zeb2), transcript variant 2, ...
Mus musculus zinc finger E-box binding homeobox 2 (Zeb2), transcript variant 2, mRNAgi|2322901351|ref|NM_015753.5|Nucleotide
-
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3 ...
X-linked retinitis pigmentosa GTPase regulator-interacting protein 1 isoform X3 [Mus musculus]gi|568989079|ref|XP_006519755.1|Protein
-
ATP synthase F(0) complex subunit C2, mitochondrial isoform e [Homo sapiens]
ATP synthase F(0) complex subunit C2, mitochondrial isoform e [Homo sapiens]gi|1620863278|ref|NP_001356686.1|Protein
-
PREDICTED: Homo sapiens ATP synthase membrane subunit c locus 2 (ATP5MC2), trans...
PREDICTED: Homo sapiens ATP synthase membrane subunit c locus 2 (ATP5MC2), transcript variant X1, mRNAgi|2462532389|ref|XM_054372257.1|Nucleotide
-
PREDICTED: Cucumis sativus epoxide hydrolase A (LOC101204329), mRNA
PREDICTED: Cucumis sativus epoxide hydrolase A (LOC101204329), mRNAgi|1784874846|ref|XM_004152194.3|Nucleotide
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Last Updated: Feb 28, 2024