Mutation Details for c.4389G>T
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cDNA Name
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c.4389G>T
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Protein Name
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p.Gln1463His
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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Q1463H
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Other Details
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The mutation was detected by DGGE analysis and characterized by direct sequencing.
We have seen it only once, in over 2100 control chromosomes from Italian population.
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Contributors
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Picci L., Cameran M., Marangon O., Marzenta D., Scarpa M.
2006-07-11
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Institute
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Lab. Genetica Molecolare Dip Pediatria, Padova, Italy
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Submitted Phenotype Details
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The mutation was identified in suspect CF Italian patient (male, 24y). The patient had borderline sweat test with recurrent pancreatitis, He carries R553X on the same allele and D806G on the other allele.
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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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