Mutation Details for c.2998_3012del

cDNA Name c.2998_3012del 
Protein Name p.Val1001_Ile1005del 
Exon or Intron exon 19 
Legacy Exon or Intron exon 17a 
Legacy Name 3131del15 
Other Details This mutation, in exon4 of the CFTR gene, was identified by direct DNA sequencing with an automatic ABI 373A sequencer and is a single base substitution from C to T at position 455 of the CFTR gene. We have detected this mutation by SSCP analysis once in 25 non-[delta]F508 chromosomes. The patient is a 19 year old German young man. He carries a [delta]F 508 mutation at his other CF-chromosome. 
Contributors Witt I,Muller H   1994-02-18
Institute St. Mary's Hospital Manchester, UK 
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#61) 

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The Database was last updated at Apr 25, 2011