Mutation Details for c.54+2909_870-1620del55429insGTACTCAACAGCTCTAG
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.54+2909_870-1620del55429insGTACTCAACAGCTCTAG
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Exon or Intron
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exon 2 - intron 7
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Legacy Exon or Intron
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exon 2 - intron 6b
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delEx2-6b
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Other Details
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The deletion was detected by semi-quantitative fluorescent multiplex PCR. Its breakpoints have been characterized by long-range PCR and sequencing.
It was inherited from the mother who is from Danemark.
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Contributors
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E. Girodon, M. Legendre, C. Costa, V. Pingault, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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The deletion was identified in a fetus with echogenic bowel at 20 weeks of gestation, in trans of W1282X. Termination of pregnancy was elected by the couple.
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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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