Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3194T>C

cDNA Name	c.3194T>C
Protein Name	p.Leu1065Pro
Exon or Intron	exon 20
Legacy Exon or Intron	exon 17b
Legacy Name	L1065P
Other Details	This mutation was detected in a single French family. The patient is PS and has a mild pulmonary disease. She carries the [delta]F508 deletion on the second allele. The mutation creates a MnII restriction site.
Contributors	Ghanem N, Costes B, Fanen P, Goossens M 1992-01-20
Institute	Unite de Recherches en Genetique Moleculaire et en Hematologie Creteil, France
Phenotype Information	CFTR2
Reference	Ghanem et al. 1994

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Literature referencing this mutation. Sort by:
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

Castaldo G, Fuccio A, Cazeneuve C, Picci L, Salvatore D, Raia V, Scarpa M, Goossens M, Salvatore F Detection of five rare cystic fibrosis mutations peculiar to Southern Italy: implications in screening for the disease and phenotype characterization for patients with homozygote mutations. 1999 007;45(7):957-62

Ghanem N, Costes B, Girodon E, Martin J, Fanen P, Goossens M Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. 1994 005 15;21(2):434-6

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The Database was last updated at Apr 25, 2011