Mutation Details for c.3021delT
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cDNA Name
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c.3021delT
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Protein Name
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p.Val1008SerfsX15
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3153delT
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Other Details
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This mutation was identified by DGGE and direct sequencing on the paternal CF chromosome of a patient whose other chromosomes carries N1303K. It was found once among the 80 CF chromosomes screened for mutations in exon 17a.
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Contributors
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Balassopoulou A,
Hatzipangiotou N
Tzetis M,
Antoniadi T,
Kanavakis E
1995-11-02
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Institute
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Laikon General Hospital
Athens, Greece
Athens University
Greece
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Submitted Phenotype Details
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Reference
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Balassopoulou & Hatzipangiotou (NL#67); Tzetis et al (NL#67)
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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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