Mutation Details for c.3119T>G

Note: this mutation was submitted but not yet reviewed by our curator.

cDNA Name c.3119T>G 
Protein Name p.Leu1040Arg 
Exon or Intron  
Other Details Mutation identified by sequencing of affected child anf the parents . The father is a carrier of DeltaF508 and the mother carrier of the novel mutation p.Leu1040Arg 
Contributors and Institutes
Dr Renu Saxena / Dr Sudha Kohli/ Dr I C Verma - Senior Consultant, Center of medical Genetics, Sir Ganga ram Hospital, New Delhi - 110060
Submitted Phenotype Details Child from north India with cystic fibrosis found compound heterozygous for deltaF508 and p.Leu1040Arg-  
Reference not decided 

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The Database was last updated at Apr 25, 2011