Mutation Details for c.3908delA
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cDNA Name
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c.3908delA
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Protein Name
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p.Asn1303ThrfsX25
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Exon or Intron
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exon 24
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Legacy Exon or Intron
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exon 21
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4040delA
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Other Details
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This frameshift mutation was detected by DGGE and subsequent sequencing in an Austrian CF patient.
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Contributors
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Greil I,
Wagner K,
Rosenkranz W
1993-06-28
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Institute
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University of Graz
Austria
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Submitted Phenotype Details
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The patient (female) was diagnosed at 1 year old. She is PI, has positive sweat chloride and carries deltaF508 on the other allele. (pers.corr. Wagner)
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Reference
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Greil et al. (NL#56)
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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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