Mutation Details for c.164+1G>C
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cDNA Name
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c.164+1G>C
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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296+1G->C
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Other Details
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A new mutation was found in intron 2 of the CFTR gene. The sequence change is G->C substitution at nucleotide 296+1 affecting the splicing process. (296+1 G->C). This mutation has been found in one out of 372 CF chromosomes of Greek origin.
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Contributors
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Tzetis M,
Andoniadi T,
Kanavakis M,
Synodinas-Traeger J,
Casals T
1994-10-31
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Institute
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St. Sophia's Children's Hospital
Athens, Greece
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Submitted Phenotype Details
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The male CF patient (33y) was diagnosed at 27 years of age. He is PI, has sweat chloride 93.1 mmol/l, FEV1 133% and Pseudomonas Aeruginosa infections. He carries 3120+1G->A on the other allele.(Tzetis et al. 2001)
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Reference
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Tzetis et al. (NL#64)
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