Mutation Details for c.490-1G>A
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cDNA Name
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c.490-1G>A
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Exon or Intron
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intron 4
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Legacy Exon or Intron
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intron 4
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622-1G->A
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Other Details
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This mutation was detected by heteroduplex and DGGE analysis. It was found in 2 polish CF patients. The first patient was diagnosed with PI, moderate lung disease, sweat chloride of 90.7-141.2 mEq/I, and with second mutation being 2143delT. The second patient was also with PI, moderate to severe lung disease, sweat chloride of 76-108 and with unknown second mutation.
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Contributors
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Zielenski J,
Markiewicz D,
Tsui LC
Casals T,
Ramos MD,
Estivill X,
Bal J,
Mazurczak T
1995-04-28
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Institute
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The Hospital for Sick Children
Toronto, ON, Canada
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Submitted Phenotype Details
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The mutation was identified in a CF patient carrying 2143delT on the other allele. The patient is PI, has moderate lung disease and sweat chloride if 141 mmol/l. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (NL#66)
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