Mutation Details for c.4C>T
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cDNA Name
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c.4C>T
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Protein Name
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p.Gln2X
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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Q2X (together with R3W)
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Other Details
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This mutation was detected by DGGE and direct sequencing.
As samples were not available, we didn't perform a family study. Thus we cannot indicate if those two nucleotidic variations were localised on the same chromosome or not. We will perform the family study as soon as possible and will inform you on the results.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Mercier B,
Kalaydjieva L,
Savov A
1993-06-29
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was found together with R3W in a 14 years old male patient diagnosed at 9 months, also carrying N1303K on the other allele; he is PI, has no pulmonary symptoms and sweat chloride 95 mEq/l. (pers. corr. Savov)
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Reference
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Savov et al. 1994a
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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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