Mutation Details for c.3907A>C

cDNA Name c.3907A>C 
Protein Name p.Asn1303His 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name N1303H 
Other Details The mutation can be detected by ASO hybridization (normal: 5'-TAG AAA AAA CTTGGA-3'; mutant: 5'-TAG AAA ACA CTT GGA-3'). The patient is 22 years old and is originating from the Kabilie ethnic group (North Africa); he presents a severe disease, including hepatic and exocrine pancreatic insufficiencies. 
Contributors Claustres M, White MB, Dean M   1991-08-06
Institute null 
Submitted Phenotype Details Patient (M) died at age 30, had PI, severe lung disease, positive sweat-chloride tests and hepatic insufficiency. 2183AA>G was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. 1992b 

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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.

  • Claustres M, Gerrard B, Kjellberg P, Desgeorges M, Demaille J, Dean M   Screening for cystic fibrosis mutations in southern France: identification of a frameshift mutation and two missense variations.   1992;1(4):310-3

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The Database was last updated at Apr 25, 2011