Mutation Details for c.3623delG

cDNA Name c.3623delG 
Protein Name p.Gly1208AlafsX3 
Exon or Intron exon 22 
Legacy Exon or Intron exon 19 
Legacy Name 3755delG 
Other Details This mutation was found by DGGE and identified by DNA sequencing in a CF patient from Lebanon. The patient is homozygous for this deletion. The mutation does not modify any restriction site. 
Contributors Claustres M, Pallares N, Megarbane A.   1998-05-26
Institute Institut de Biologie, Montpellier 
Submitted Phenotype Details The homozygous patient (male, 1y) was diagnosed at 3 months with atypical CF. He is PI and has severe lung disease. (pers. corr. Claustres) 
Reference Claustres et al. (NL#70) 

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The Database was last updated at Apr 25, 2011