Mutation Details for c.328delG
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cDNA Name
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c.328delG
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Protein Name
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p.Asp110ThrfsX14
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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460delG
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Other Details
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A new frameshift mutation was found in exon 4 of the CFTR gene. The deletion of a G at position 460 was found after DGGE screening and subsequent sequencing of the PCR product. The second mutation of the patient is not yet detected and we have found this deletion once in 120 non[delta]F508 CF chromosomes so far screened by DGGE.
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Contributors
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Wagner K,
Rosenkranz W
1994-10-10
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Institute
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Institut fur Medizinische Biologie & Humangenetik
Graz, Austria
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Submitted Phenotype Details
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The patient (female) was diagnosed at 32 years of age. She is PS, has positive sweat chloride tests and carries 2381C->T on the other allele. (pers. corr. Wagner)
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Reference
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Wagner & Rosenkranz (NL#64)
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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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