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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.2128A>T
cDNA Name
c.2128A>T
Protein Name
p.Lys710X
Exon or Intron
exon 14
Legacy Exon or Intron
exon 13
Legacy Name
K710X
Other Details
Contributors
Fanen P, Ghanem N, Goossens M 1991-07-19
Institute
Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France
Phenotype Information
CFTR2
Reference
Fanen et al. 1992
To check if there are any papers published about this mutation/variant on PubMed, please
click here.
Literature referencing this mutation. Sort by:
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Publish Date
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.
Claustres M, Desgeorges M, Moine P, Morral N, Estivill X CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France. 1996 009;98(3):336-44
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The Database was last updated at Apr 25, 2011
