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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.3925C>G
cDNA Name
c.3925C>G
Protein Name
p.Gln1309Glu
Exon or Intron
exon 24
Other Details
Probable polymorphism
Contributors and Institutes
Martin Schwarz
-
Genetic Medicine, St Mary's Hospital, Manchester
Jo Brock
-
Genetic Medicine, St Mary's Hospital, Manchester
Megan Adaway
-
Genetic Medicine, St Mary's Hospital, Manchester
Submitted Phenotype Details
Newborn Bangladeshi baby with meconium ileus. No other mutation identified.
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