Mutation Details for c.2707T>C
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cDNA Name
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c.2707T>C
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Protein Name
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p.Tyr903His
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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2839T/C
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Other Details
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This polymoporhism was detected by DGGE and direct sequencing. It was found on the nromal chromosome of the fahter of a CF patient, and was not detected in 70 normal and 150 CF chromosomes.
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Contributors
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Balassopoulou A,
Hatzipanaiotou N
1995-06-30
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Institute
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Laikon General Hospital
Athens
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Submitted Phenotype Details
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Reference
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Balassopoulou & Hatzipanaiotou (NL#66)
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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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