Mutation Details for c.1364C>A

cDNA Name c.1364C>A 
Protein Name p.Ala455Glu 
Exon or Intron exon 10 
Legacy Exon or Intron exon 9 
Legacy Name A455E 
Other Details The 2 CF chromosomes carrying this mutation are from patients of a French-Canadian origin and they belong to haplotype group Ib. The mutation is detectable by allele-specific oligonucleotide hybridization with PCR-amplified genomic DNA sequence.  
Contributors Kerem B, Tsui LC   1990-02-09
Institute The Hospital for Sick Children Toronto, ON, Canada 
Phenotype Information CFTR2
Reference Kerem et al. 1990 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

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The Database was last updated at Apr 25, 2011