Cystic Fibrosis Mutation Database: Mutation Detail

Mutation Details for c.3528delC

cDNA Name	c.3528delC
Protein Name	p.Lys1177SerfsX15
Exon or Intron	exon 22
Legacy Exon or Intron	exon 19
Legacy Name	3659delC
Other Details	A frameshift mutation in exon 19 in a single CF chromosome found in family #2. This mutation was not present in 57 non-[delta]F508 CF chromosomes and 50 N chromosomes. The deletion may by detected by PCR with a common oligonucleotide primer 19i-5 and 2 ASO primers.
Contributors	Kerem B, Zieleski J, Bozon D, Tsui LC 1990-05-04
Institute	The Hospital for Sick Children Toronto, ON, Canada
Phenotype Information	CFTR2
Reference	Kerem et al. 1990

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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.

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

Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes. 1996;8(3):229-35

Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P Genetic determination of exocrine pancreatic function in cystic fibrosis. 1992 006;50(6):1178-84

Schaedel C, Hjelte L, de Monestrol I, Johannesson M, Kollberg H, Kornfalt R, Holmberg L Three common CFTR mutations should be included in a neonatal screening programme for cystic fibrosis in Sweden. 1999 010;56(4):318-22

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The Database was last updated at Apr 25, 2011