Mutation Details for c.1127_1128insA

cDNA Name c.1127_1128insA 
Protein Name p.Gln378AlafsX4 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name 1259insA 
Other Details Found once in an individual who is a compound heterozygote for the 1717-1G->A. This mutation results in the increase of a string of A's into five which is expected to lead to the premature termination of product due to the formation of a TAA stop codon four codons downstream at codon position 381. Detection by SSC/HA. This mutation was shown to have been inherited from the parent without 1717-1G->A. This mutation can be detected by SSCA and HA. 
Contributors Shrimpton AE, Swender P   1996-10-09
Institute SUNY Health Science Center, Syracuse, New York 
Phenotype Information CFTR2
Reference Shrimpton & Swender (NL#69) 

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The Database was last updated at Apr 25, 2011