Mutation Details for c.4042delC
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cDNA Name
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c.4042delC
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Protein Name
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p.His1348MetfsX6
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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4173delC
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Other Details
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A new mutation was detected in the CFTR gene by heteroduplex-MDE analysis. The frameshift mutation (4173delC) in exon 22 of the CFTR gene. The mutation was detected by heteroduplex analysis of DNA amplified by PCR with exon 22 specific primers (22i-5, 5'-AAACGCTGAGCCTCACAAGA-3' and 22i-3, 5'-TGTCACCATGAAGCAGGCAT-3'). Sequencing analysis showed deletion of C at the position 4173. The 4173delC allele was found on one of the chromosomes of a CBAVD patient.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1994-05-26
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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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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#62)
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