Mutation Details for c.744-10_744-3del

cDNA Name c.744-10_744-3del 
Exon or Intron intron 6 
Legacy Exon or Intron intron 6a 
Legacy Name 876-10del8 
Other Details The deletion, of at least 8 nucleotides (because the precise number of TTGA repeats on the allele cannot be determined) is to be considered as a splice mutation (T replaced by G at position 2 of the splice junction consensus). The mutation was detected by DGGE analysis and identified by direct sequencing. 
Contributors Costes B, Martin J, Ghanem N Goossens M   1992-05-27
Institute Laboratoire de Biochimie Creteil, France 
Submitted Phenotype Details 876-10del8 was found in a 39y male patient diagnosed at 28y with CBAVD. He is PS and also carries 1342-6(5T) on the other allele. (pers. corr. Girodon) 
Reference Costes et al. (NL#46,47) 

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The Database was last updated at Apr 25, 2011