Mutation Details for c.54-1161_164+1603del2875

cDNA Name c.54-1161_164+1603del2875 
Exon or Intron intron 1 
Legacy Exon or Intron intron 1 
Legacy Name CFTR-dele2 
Other Details Name is in accordance with the standard nomenclature guidelines (HGVS): c.54-1161_c.164+1603del2875 This deletion is different from deletion of exon2 previously described by Ferec et al. EJHG, 2006. 
Contributors Claustres M, Altieri JP, Templin C, Guittard C, des Georges M.   2007-04-12
Institute Laboratoire de Genetique Moleculaire. IURC. CHU del Montpellier. France 
Submitted Phenotype Details The large deletion is identified by semi-quantitative fluorescent PCR in South african boy who carries 3120+1G>A in trans. He presented a classical form of CF: failure to thrive, fatty stools, pulmonary infection (Ps. Aeruginosa) and positive sweat test. His parents are from Zimbabwe origin. 

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