Mutation Details for c.2490+14G>A

cDNA Name c.2490+14G>A 
Exon or Intron intron 14 
Legacy Exon or Intron intron 13 
Legacy Name 2622+14G/A 
Other Details The G to A sequence variation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Site Generating PCR assay. The A variant was found twice, in conjunction with N1303K, out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation. It was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients. 
Contributors Benetazzo MG, Bombieri C, Castellani C, Pignatti PF   1998-03-30
Institute Ist Biologia e Genetica Universita' di Verona Italy 
Submitted Phenotype Details The mutation was found in a female subject diagnosed with neonatal hypertrypsinemia. She PS and has normal sweat chloride. N1303K was found on the other allele. (pers. corr. Bombieri) 
Reference Benetazzo et al. (NL#70) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011