Mutation Details for c.3634G>A
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cDNA Name
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c.3634G>A
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Protein Name
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p.Val1212Ile
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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V1212I
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Other Details
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The V1212I mutation was detected as a second alteration in two Czech CF siblings who are [delta]F508 homozygotes. ASO analysis of 171 non-CF chromosomes did not detect this mutation on any tested chromosomes.
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Contributors
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Macek MJr,
Davis CL,
Hamosh A,
Cutting GR
1993-05-18
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient (male) was diagnosed at 23y, is PS, with mild lung disease and sweat chloride 90 mmol/l. Pseudomonas lung colonization is present and the patient is infertile. He is also DelF508 homozygous.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#55)
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