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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.3762A>T
cDNA Name
c.3762A>T
Protein Name
p.Leu1254Phe
Exon or Intron
exon 23
Other Details
detected during carrier screening in a healthy Turkish person
Contributors and Institutes
Gille JJP
-
Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands
Zwijnenburg PJG
-
Department of Clinical Genetics, VU University Medical Center Amsterdam, The Netherlands
Submitted Phenotype Details
healthy person
Reference
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