Mutation Details for c.2836A>T

cDNA Name c.2836A>T 
Protein Name p.Lys946X 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name K946X 
Other Details The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other (paternal) CF mutation is still unknown. He is of (very) mixed parentage, his maternal grandparents being Mexican/American Indian and French/English. We have seen K946X only once, in this family referred by the South West Thames Regional Genetics Service.  
Contributors Haworth A, Schwarz M, Malone G   1996-06-10
Institute Royal Manchester Children's Hospital, England. 
Submitted Phenotype Details The patient (male, born in September 1994) has seat test positive. He carries A559T on the other allele. (pers.corr. Schwarz) 
Reference Haworth et al. (NL#69) 

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The Database was last updated at Apr 25, 2011