Mutation Details for c.4234C>T

cDNA Name c.4234C>T 
Protein Name p.Gln1412X 
Exon or Intron exon 26 
Legacy Exon or Intron exon 23 
Legacy Name Q1412X 
Other Details A new nonsense mutation was found in exon 23 of CFTR. The mutation is a T->C transition at residue 4366 changing glutamine to stop (Q1412X). No recognizable restriction site is altered by this mutation. Q1412X was detected by SSCP/heteroduplex analysis followed by direct sequencing and was observed only once in an English CF patient. 
Contributors Wallace A, Tassabehji M   1993-12-14
Institute St. Mary's Hospital Manchester UK 
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#60) 

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The Database was last updated at Apr 25, 2011