Mutation Details for c.-461A>G

cDNA Name c.-461A>G 
Exon or Intron promoter 
Legacy Exon or Intron promoter and 5' UTR 
Legacy Name -329A/G 
Other Details This is probably a polymorphism since it was found in a boy born with meconium ileus who has [delta]F508 on the other allele. This child is now one year old, remains well and his sweat Na+ and Cl- were 12 mM and 6mM respectively. -329A->G was also detected by SSCP/heteroduplex analysis and creates a novel PvuII restriction site. This substitution was found only once in 98 chromosomes. 
Contributors Wallace A, Tassabehji    1994-02-18
Institute St. Mary's Hospital Manchester, England 
Submitted Phenotype Details  
Reference Wallace & Tassabehji (NL#61) 

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The Database was last updated at Apr 25, 2011