Mutation Details for c.4196_4197delTC
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cDNA Name
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c.4196_4197delTC
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Protein Name
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p.Cys1400X
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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4326delTC
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Other Details
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A new frameshift mutaion (4326delTC) in exon 23 of the CFTR gene was detected by heteroduplex-MDE analysis of DNA amplified by PCR with exon 23 specific primers (23i-5, 5'-AGCTGATTGTGCGTAACGCT-3' and 23i-3, 5'-TGTCACCATGAAGCAGGCAT-3'). Sequencing analysis showed deletion of TC dinucleotide from TC repeat starting at the nucleotide position 4326. The 4326delTC allele was found once among 192 CF chromosomes screened for mutations in exon 23. Mutation on the other chromosome of the pancreatic insufficient (PI) patient is [delta]F508.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1994-01-11
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Institute
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Hospital For Sick Children
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in 3 siblings heterozygous for deltaF508, 2 females, 1 male, all PI, with mild pulmonary symptoms and sweat chloride >90 mmol/l.(pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#61)
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