Mutation Details for c.3322G>C
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cDNA Name
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c.3322G>C
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Protein Name
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p.Val1108Leu
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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V1108L
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Other Details
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The new missense mutation in the exon 17b was detected by DGGE and identified by direct sequencing. The mutation was found in an isolated CBAVD patient with no other CF/ CFTR mutation identified after complete gene screening.
The mutation was not detected in 200 CFTR alleles from 100 healthy fertile males and 90 chromosomes from 45 CBAVD patients.
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Contributors
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Grangeia A., Carvalho F., Fernandes S., Sousa M., Barros A.
2006-04-07
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Institute
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Department of Genetics, Faculty of Medicine of Porto, Portugal
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Submitted Phenotype Details
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The patient was diagnosed with CBAVD, is PS, no pulmonary disease and negative sweat-chloride test (pers. corr. Grangeia).
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Reference
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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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