Mutation Details for c.4231C>T
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cDNA Name
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c.4231C>T
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Protein Name
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p.Gln1411X
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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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Q1411X
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Other Details
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A nonsense mutation, Q1411X, resulting from a C to T transition at nucleotide 4363 in exon 23 was detected in a CF carrier. It was not found among 121 CF chromosomes screened nor 42 non-CF chromosomes. The substitution does not modify any restriction site in the DNA sequence.
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Contributors
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Costes B,
Goossens M,
Ghanem N
1993-08-18
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Submitted Phenotype Details
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Q1411X was found in a 40y old male diagnosed with CBAVD at 30t, is PS and has borderline sweat chloride. The other mutations are R668C-G576A-D443Y. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#58)
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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