Mutation Details for c.2989-14c>A

cDNA Name c.2989-14c>A 
Exon or Intron intron 18 
Other Details  
Contributors and Institutes
Alonso MJ - Instituto de Biología y Genética Molecular (IBGM).Universidad de Valladolid (Spain)
Tellería J - Instituto de Biología y Genética Molecular (IBGM).Universidad de Valladolid (Spain)
Fernández I - Instituto de Biología y Genética Molecular (IBGM).Universidad de Valladolid (Spain)
Blanco A - Instituto de Biología y Genética Molecular (IBGM).Universidad de Valladolid (Spain)
  
Submitted Phenotype Details This nucleotide change was identified in a spanish male with severe oligoasthenoteratozoospermia. He carries also IVS8-5T allele but we couldn´t stablish if both variations are in cis or in trans. 
Reference  

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