Mutation Details for c.4234C>T
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cDNA Name
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c.4234C>T
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Protein Name
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p.Gln1412X
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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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Q1412X
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Other Details
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A new nonsense mutation was found in exon 23 of CFTR. The mutation is a T->C transition at residue 4366 changing glutamine to stop (Q1412X). No recognizable restriction site is altered by this mutation. Q1412X was detected by SSCP/heteroduplex analysis followed by direct sequencing and was observed only once in an English CF patient.
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Contributors
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Wallace A,
Tassabehji M
1993-12-14
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Institute
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St. Mary's Hospital
Manchester UK
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Submitted Phenotype Details
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Reference
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Wallace & Tassabehji (NL#60)
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