Mutation Details for c.1681_1682insC
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cDNA Name
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c.1681_1682insC
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Protein Name
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p.Val562SerfsX6
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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1813insC
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing. The frameshift would lead to a downstream stop codon in the CFTR mRNA. This mutation was found in a female with CF carrying the [delta]F508 mutation on the other allele. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history in their families.
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Contributors
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Scheffer H,
Wu Y,
Hofstra R,
Looman M,
Buys C
1996-10-23
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Institute
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Department of Medical Genetics, Faculty of Medical Sciences, University of Groningen,
The Netherlands
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Submitted Phenotype Details
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Reference
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Scheffer et al. (NL#69)
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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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