Mutation Details for c.1766+73T>G

cDNA Name c.1766+73T>G 
Exon or Intron intron 13 
Legacy Exon or Intron intron 12 
Legacy Name 1898+73T->G 
Other Details This mutation was detected by chemical mismatch cleavage analysis and sequencing. The sequence change creates a possible splice donor. This sequence alteration was detected in a pancreatic sufficient cystic fibrosis patient. The mutation on the patient's second chromosome is unknown. The mutation can be detected using the following ASO's: normal 5' ATCATAGATTGCATTTTA 3', mutant 5' ATCATAGAGTGCATTTTA 3' with a final wash at 41 degrees celsius in 40 mM NaHPO4, 1mM EDTA, 0.5% SDS for 15 minutes. 1898+73G->T was not found on on 40 non-[delta]F508 CF chromosomes, nor on 14 [delta]F508 CF chromosomes nor on 27 normal chromosomes. 
Contributors Smit L, Strong T, Iannuzzi M, Collins F, Tsui LC   1991-08-08
Institute Howard Hughes Medical Institute Ann Arbor, MI, USA 
Submitted Phenotype Details The mutation was identified in a PS patient. (pers. corr. Strong) 
Reference Smit et al. (NL#37) 

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The Database was last updated at Apr 25, 2011