Mutation Details for c.54-1161_164+1603del2875
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cDNA Name
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c.54-1161_164+1603del2875
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Exon or Intron
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intron 1
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Legacy Exon or Intron
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intron 1
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CFTR-dele2
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Other Details
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Name is in accordance with the standard nomenclature guidelines (HGVS): c.54-1161_c.164+1603del2875
This deletion is different from deletion of exon2 previously described by Ferec et al. EJHG, 2006.
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Contributors
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Claustres M, Altieri JP, Templin C, Guittard C, des Georges M.
2007-04-12
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Institute
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Laboratoire de Genetique Moleculaire. IURC. CHU del Montpellier. France
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Submitted Phenotype Details
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The large deletion is identified by semi-quantitative fluorescent PCR in South african boy who carries 3120+1G>A in trans. He presented a classical form of CF: failure to thrive, fatty stools, pulmonary infection (Ps. Aeruginosa) and positive sweat test.
His parents are from Zimbabwe origin.
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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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