Mutation Details for c.3185T>A

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

cDNA Name c.3185T>A 
Protein Name p.Leu1062Gln 
Exon or Intron  
Other Details  
Contributors and Institutes
Malgorzata Libik, Oleg Kvlividze, Milan Macek -
Submitted Phenotype Details Patient from Georgia CF (born 2003) suspected for CF. On the other allele detected mutation c.708dupT p. Gln237Serfs*21 

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The Database was last updated at Apr 25, 2011