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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.3331_3332delinsA
cDNA Name
c.3331_3332delinsA
Protein Name
p.Phe1111ThrfsX10
Exon or Intron
exon 20
Other Details
Also has S1235R (p.Ser1235Arg; c.3705T>G). Phase unknown
Contributors and Institutes
error reading database
Submitted Phenotype Details
CF in an infant with abnormal sweat test.
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