Mutation Details for c.741C>G
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cDNA Name
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c.741C>G
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Protein Name
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p.Tyr247X
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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Y247X
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Other Details
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Y247X was detected by DGGE and confirmed by direct sequencing. It was found in a CF adult, currently 21 years old, of Greek origin out of 472 CF alleles tested. The patient's other CF allele is [delta]F508. The patient has pancreatic insufficient since birth sweat chloride of 81.2 mEq/L,
chronic cough and obstructive lung disease.
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Contributors
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Tzetis M,
Antoniadi T,
Kanavakis E
1995-05-30
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Institute
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Athens University First Dept. of Pediatrics
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Submitted Phenotype Details
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The mutation was identified in a 22 years old male patient PI, FEV1 39% (obstructive lung disease and cough), sweat 81.2 mmol/l, also carrying deltaF508 on the other allele.(Tzetis et al. 1997)
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Reference
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Tzetis et al. (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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