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cDNA Name
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c.1920T>C
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Protein Name
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p.Phe640Phe
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Exon or Intron
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exon 14
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Other Details
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Name in accordance with the standard nomenclature guidelines (HGVS): c.1920T>C or p.Phe640Phe
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Contributors and Institutes
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| Altieri JP | - | Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France | | Templin C | - | Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France | | Guittard C | - | Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France | | Claustres M | - | Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France | | des Georges M | - | Laboratoire de Genetique Moleculaire. IURC. CHU de Montpellier. France |
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Submitted Phenotype Details
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This alteration was identified by sequencing in a 14 yo patient suspected of CF (bronchitis, digestive symptoms and 3 positive sweat tests). He was compound heterozygous for p.Phe508del and p.ŠArg74Trp;Val201Met;Asp1270Asn‹p.Phe640Phe was found on the same allele as p.ŠArg74Trp;Val201Met;Asp1270Asn‹
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Reference
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