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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.2052dupA
Note: this mutation was submitted but not yet reviewed by our curator.
cDNA Name
c.2052dupA
Protein Name
p.Gln685ThrfsX4
Exon or Intron
Other Details
Other mutation is dF508
Contributors and Institutes
George B. Mallory Jr.
-
Texas Children's Hospital
Submitted Phenotype Details
Patient who had recent lung and liver transplant and then had an episode of pancreatitis.
Reference
none
To check if there are any papers published about this mutation/variant on PubMed, please
click here.
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The Database was last updated at Apr 25, 2011