Mutation Details for c.3468+2T>C

cDNA Name c.3468+2T>C 
Exon or Intron intron 21 
Legacy Exon or Intron intron 18 
Legacy Name 3600+2T->C 
Other Details This sequence variation was detected by DGGE and identified by direct sequencing. This splice mutation 3600+2T->C was not found in 100 other non-[delta]F508 CF chromosomes and 500 non-CF chromosomes tested. This mutation was observed in a male subject with congenital bilateral absence of the vas deferens. The chloride sweat test was normal (40 mM), but the patient had abnormal nasal potential difference. The other mutation is unknown. 
Contributors Bienvenu T, Bousquet S, Souville I   2000-11-01
Institute Laboratoire de Biochimie Génétique Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details  
Reference Bienvenu et al. 2000 

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The Database was last updated at Apr 25, 2011