Mutation Details for c.1111_1112ins6

cDNA Name c.1111_1112ins6 
Protein Name p.Lys370_Ile371insThrLys 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name 1243ins6 
Other Details The above mutation was detected by SSCP analysis of exon 7. 
Contributors Shackleton S, McDowell T, Harris A   1995-10-04
Institute Institute of Molecular Medicine, Oxford 
Submitted Phenotype Details The male caucasian CF patientwas diagnosed in infancy, presenting with low weight and height at birth. He is PI and no other mutation was identified. (pers. corr. Harris) 
Reference Shackleton et al (NL#67) 

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