Mutation Details for c.53+4A>T

cDNA Name c.53+4A>T 
Exon or Intron intron 1 
Legacy Exon or Intron intron 1 
Legacy Name 185+4A->T 
Other Details This mutation in intron 1 was detected by DGGE and was found in one CF patient with CBAVD: 185+4 a->T. 
Contributors Claustres M, Culard JF, Desgeorges M, Razakatzara G   1993-09-06
Institute Laboratoire de Biochimie Genetique Montpellier, France 
Submitted Phenotype Details 185+4A->T was found in a CBAVD patient also carrying F508del in cis. (pers. corr. Claustres)  
Reference Culard et al. 1994 

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The Database was last updated at Apr 25, 2011