Mutation Details for c.3916_3917insCC

cDNA Name c.3916_3917insCC 
Protein Name p.Tyr1307ProfsX22 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4048insCC 
Other Details This frameshift mutation, 4048insCC, creates a stop codon 61 bp downstream in exon 22. This mutation was observed in one English 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 M (NL#58) 

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The Database was last updated at Apr 25, 2011