Mutation Details for c.1920T>C

cDNA Name c.1920T>C 
Protein Name p.Phe640Phe 
Exon or Intron exon 14 
Other Details Name in accordance with the standard nomenclature guidelines (HGVS): c.1920T>C or p.Phe640Phe 
Contributors and Institutes
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
  
Submitted Phenotype Details 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‹ 
Reference  

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The Database was last updated at Apr 25, 2011