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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
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Mouse CFTR Genomic Sequence
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Mutation Details for c.164+1G>A
cDNA Name
c.164+1G>A
Exon or Intron
intron 2
Legacy Exon or Intron
intron 2
Legacy Name
296+1G->A
Other Details
Contributors
Wagner K. 2002-01-01
Institute
University of Graz Inst. Med. Biology & Human Genetics Graz Austria
Submitted Phenotype Details
The CF patient (male) was diagnosed at 4 months of age. He carries deltaF508 on the other allele. (pers.corr. Wagner)
Reference
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The Database was last updated at Apr 25, 2011