Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.223C>T

cDNA Name	c.223C>T
Protein Name	p.Arg75X
Exon or Intron	exon 3
Legacy Exon or Intron	exon 3
Legacy Name	R75X
Other Details	This mutation was identified in a German PI patient with N1303K on the other allele. The patient carries haplotype C and the 125G->C polymorphism.
Contributors	Dork T, Tummler B 1992-08-11
Institute	Medizinische Hochschule Hannover Hannova, Germany
Phenotype Information	CFTR2
Reference	Dörk et al. 1994b

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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.

Laufer-Cahana A, Lerer I, Sagi M, Rachmilewitz-Minei T, Zamir C, Rivlin JR, Abeliovich D Cystic fibrosis mutations in Israeli Arab patients. 1999 012;14(6):543

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

Wine JJ, Kuo E, Hurlock G, Moss RB Comprehensive Mutation Screening in a Cystic Fibrosis Center. 2001 002;107(2):280-286

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The Database was last updated at Apr 25, 2011