Mutation Details for c.701C>A

cDNA Name c.701C>A 
Protein Name p.Ala234Asp 
Exon or Intron exon 6 
Other Details This mutation was identified on one Southern Italy CF chromosome. The mutation was identified by DHPLC screening of CFTR exons followed by sequencing of both the strands. 
Contributors and Institutes
Tuccio G - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
Picci L - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
Camaeran M - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
Marzenta D - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
Marangon O - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
Scarpa M - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
Provenzano E. - Centro Regionale Fibrosi Cistica, Soverato (CZ), Italia Dipartimento di Pediatria - Padova
  
Submitted Phenotype Details This mutation was identified in a CF patient from the Calabria region of Southern Italy. The individual (female, 28y) carrier W57G on the other allele. The patient has pulmonary disease and positive sweat chloride. 
Reference  

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The Database was last updated at Apr 25, 2011