Mutation Details for c.3569T>A
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cDNA Name
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c.3569T>A
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Protein Name
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p.Val1190Asp
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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V1190D
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Other Details
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A new novel missense mutation in exon 19 of the CFTR gene was detected by SSCP and heteroduplex analysis followed by direct sequencing. Mutation is a single base substitution T -> A at nucleotide position 3701, which results in the replacement of a valine residue by a proline residue at codon 1190.
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Contributors
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Glavac D,
Ravnik-Glavac M,
Dean M
1994-12-07
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Institute
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Kemijski Institut
Ljubljana, Slovenia
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Submitted Phenotype Details
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Reference
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Glavac et al. (NL#64)
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