Mutation Details for c.4200_4201delTG

cDNA Name c.4200_4201delTG 
Protein Name p.Cys1400X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name 4332delTG 
Other Details This frameshift was found by DGGE and identified by direct sequencing in a CBAVD patient from Southern France who carries the R117H mutation. It doesn't modify any restriction site. 
Contributors Claustres M, Carles S   1998-12-08
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details The mutation was identified in a CBAVD 31 years old patient, PS with mild respiratory symptoms, carrying R117H-7T on the other allele. (pers. corr. Claustres) 
Reference Clasutres & Carles 1998 

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The Database was last updated at Apr 25, 2011