Mutation Details for c.3937C>T
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cDNA Name
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c.3937C>T
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Protein Name
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p.Gln1313X
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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Q1313X
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Other Details
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A nucleotide change C->T was detected at position 4069 leading to Q1313X in exon 21. This change was detected once while screening 100 CF chromosome, which was identified by DGE and direct sequencing.
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Contributors
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Ferec C,
Quere I,
Mercier B,
Audrezet MP,
Guillermit H,
Verlingue C
1992-08-17
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Phenotype Information
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CFTR2
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Reference
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Audrézet et al. 1993a
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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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