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CFTR Gene
Genomic DNA Sequence
mRNA(cDNA) and Polypeptide Sequence
CFTR Domains
Mouse CFTR Genomic Sequence
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Mutation Details for c.518_522delATAAA
cDNA Name
c.518_522delATAAA
Protein Name
p.Ile175TyrfsX6
Exon or Intron
exon 5
Legacy Exon or Intron
exon 5
Legacy Name
650delATAAA
Other Details
Contributors
Huang Q, Yuan XW and Zielenski J 2008-07-11
Institute
Department of Genetics and Genome Biology The Hospital for Sick Children, Toronto, Canada
Submitted Phenotype Details
Reference
To check if there are any papers published about this mutation/variant on PubMed, please
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The Database was last updated at Apr 25, 2011
