Mutation Details for c.1738delG

cDNA Name c.1738delG 
Protein Name p.Val580PhefsX2 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name 1870delG 
Other Details  
Contributors Seydewitz H H, Gonska T, Mall M, Kuehr J   2000-11-07
Institute Klin.chem Labor Universit├Ąts-Kinderklinik, Freiburg, Germany 
Submitted Phenotype Details The patient (female, 13y) was diagnosed at birth. She has sweat chloride 90-115 mmol/l, is PI, has DIOS, rec. bronchitis&pneumonia PA.&Staph. colonisation,bronchiectasis. (Seydewitz et al. 2000) 
Reference Seydewitz et al. 2000 (Hum Mutat 2000;16:277) 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Seydewitz HH, Gonska T, Mall M, Kueh J   A novel frameshift mutation, c.1870delG, in exon 12 of the CFTR gene.   2000 009;16(3):277

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The Database was last updated at Apr 25, 2011