Mutation Details for c.3909_3914del6insTGT

cDNA Name c.3909_3914del6insTGT 
Protein Name p.Leu1304_Asp1305delinsVal1304 
Exon or Intron exon 24 
Legacy Exon or Intron exon 21 
Legacy Name 4041_4046del6insTGT 
Other Details The mutation was identified in a CBAVD patient in cis with another, close, exon 21 variation, Q1309H (4059G>T). The complex allele was inherited from the mother. Whether the two anomalies are related to the same mutational event was not sought. D1152H was identified in trans.  
Contributors E. Girodon, F. Niel, C. Costa, M. Goossens   2006-08-25
Institute Biochimie-Genetique, hopital Henri-Mondor, Creteil, France 
Submitted Phenotype Details Isolated CBAVD 

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The Database was last updated at Apr 25, 2011