Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3063_3068delAGTGAT

cDNA Name	c.3063_3068delAGTGAT
Protein Name	p.Ile1023_Val1024del
Exon or Intron	exon 19
Legacy Exon or Intron	exon 17a
Legacy Name	3195del6
Other Details
Contributors	Claustres et al. 1994 1994-01-01
Institute	Laboratoire de Biochimie Genetique Montpellier, France
Submitted Phenotype Details	The 17 years old male CF patient was diagnosed at 5years of age. He is PI, has severe lung disease with PA infections. He carries 394delTT on the other allele. (Romey et al. 1996 and pers. corr Claustres)
Reference	Claustres 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.

Claustres M, Laussel M, Desgeorges M, Demaille J Identification of a 6 bp deletion (3195del6) in exon 17a of the cystic fibrosis (CFTR) gene. 1994 002;3(2):371

Romey MC, Tuffery S, Desgeorges M, Bienvenu T, Demaille J, Claustres M Transcript analysis of CFTR frameshift mutations in lymphocytes using the reverse transcription-polymerase chain reaction technique and the protein truncation test. 1996 009;98(3):328-32

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The Database was last updated at Apr 25, 2011