Mutation Details for c.1572C>A

cDNA Name c.1572C>A 
Protein Name p.Cys524X 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name C524X 
Other Details Using the chemical cleavage technique and direct sequencing, a C to A transversion has been demonstrated, changing a cysteine residue to a stop codon. C524X has been found on 1 out of 40 CF chromosomes with unknown mutations in association with the A haplotype but not on 30 chromosomes with known mutation or on 12 normal chromosomes. This mutation can be detected using SphI or NspI - site destroyed in both cases. 
Contributors Jones C, McIntosh I, Brock D   1990-08-31
Institute University of Edinburgh Edinburgh, Scotland 
Submitted Phenotype Details  
Reference Jones et al. 1992 

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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.

  • Jones CT, McIntosh I, Keston M, Ferguson A, Brock DJ   Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.   1992 004;1(1):11-7

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The Database was last updated at Apr 25, 2011