Mutation Details for c.3761T>G

cDNA Name c.3761T>G 
Protein Name p.Leu1254X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name L1254X 
Other Details This nonsense mutation, L1254X (T->G at position 3893), creates a Sau3 site in exon 20. This mutation was observed once in an English CF patient and was detected by SSCP/heteroduplex analysis followed by direct sequencing. 
Contributors Wallace A, Tassabehji M   1993-08-04
Institute St. Mary's Hospital Manchester UK 
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#58) 

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The Database was last updated at Apr 25, 2011