Mutation Details for c.3274T>C
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cDNA Name
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c.3274T>C
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Protein Name
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p.Tyr1092His
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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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Y1092H
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Other Details
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The Y1092H mutation was seen on 1 Caucasian chromosome in US. ASO analysis revealed that this alteration was not present on 100 non-CF Caucasian chromosomes. This mutation was found in a 9 year old patient with a diagnosis of asthma. Sweat testing was borderline with values of 58 and 52. Tests were negative for staph and pseudomonas. The mutation was found after screening of 16 common mutations ([delta]F508, R117H, W1282X, 621+1G->T, R334W, R347P, A445E, [delta]I507, 1717-1G->A, G542X, S549N, G551D, R553X, R560T, N1303K, 3849+10kbC->T) by reverse dot blot and 4 exons by DGGE. It is yet to be determined if a second CF mutation will be found.
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Contributors
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Egan M M,
Zhang J,
Cutting G R
1997-01-11
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Institute
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Center for Medical Genetics,
John Hopkins Hospital
Baltimore MD
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Submitted Phenotype Details
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Reference
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Egan et al. (NL#69)
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