Mutation Details for c.3691delT
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cDNA Name
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c.3691delT
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Protein Name
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p.Ser1231ProfsX4
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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3821-3823del T
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Other Details
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The mutation was detected by direct sequencing. This Hispanic CF patient has S945L on the other CF chromosome.
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Contributors
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Wong L-J C,
Alper Ö
2002-06-18
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Institute
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Institute for Molecular and
Human Genetics
Georgetown University
Medical Center
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Submitted Phenotype Details
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The mutation was found in a 35 years old Hispanic CF patient diagnosed at 29. He is PS, has sweat chloride 60 mmol/l and carries S945L on the other allele. (pers. corr. Alper)
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Reference
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Wong & Alper 2002
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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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