Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.948delT

cDNA Name	c.948delT
Protein Name	p.Phe316LeufsX12
Exon or Intron	exon 8
Legacy Exon or Intron	exon 7
Legacy Name	1078delT
Other Details	This mutation was detected by the SSCP method and consists of a T deletion at nucleotide 1078 (1078 delt T); it does not alter any restriction site. The patient carries a [delta]F508 mutation on the other chromosome.
Contributors	Claustres M, Gerrard B, White MB, Dean M 1991-07-03
Institute	National Cancer Institute Frederick, MD, USA
Phenotype Information	CFTR2
Reference	Claustres et al. 1992a

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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, Gerrard B, White MB, Desgeorges M, Kjellberg P, Rollin B, Dean M A new mutation (1078delT) in exon 7 of the CFTR gene in a southern French adult with cystic fibrosis. 1992 007;13(3):907-8

Cremonesi L, Ferrari M, Belloni E, Magnani C, Seia M, Ronchetto P, Rady M, Russo MP, Romeo G, Devoto M Four new mutations of the CFTR gene (541delC, R347H, R352Q, E585X) detected by DGGE analysis in Italian CF patients, associated with different clinical phenotypes. 1992;1(4):314-9

Estivill X, Bancells C, Ramos C Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium. 1997;10(2):135-54

Hakala H, Virta P, Salo H, Lonnberg H Simultaneous detection of several oligonucleotides by time-resolved fluorometry: the use of a mixture of categorized microparticles in a sandwich type mixed-phase hybridization assay. 1998 012 15;26(24):5581-8

Will K, Dork T, Stuhrmann M, von der Hardt H, Ellemunter H, Tummler B, Schmidtke J Transcript analysis of CFTR nonsense mutations in lymphocytes and nasal epithelial cells from cystic fibrosis patients. 1995;5(3):210-20

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The Database was last updated at Apr 25, 2011