Mutation Details for c.1162_1168delACGACTA
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cDNA Name
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c.1162_1168delACGACTA
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Protein Name
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p.Thr388GlnfsX3
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Exon or Intron
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exon 9
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Legacy Exon or Intron
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exon 8
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1294del7
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Other Details
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The mutation was detected by DGGE and identified by direct sequencing. The defect is a deletion of seven nucleotides at position 1294 in exon 8 (1294del7). This mutation will lead to a downstream stopcodon in the CFTR mRNA. This mutation has been found in a male with CF carrying the [delta]F508 mutation on the other allele.
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Contributors
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Scheffer H,
Wu Y,
Hofstra R,
Looman M,
Buys C
1996-11-26
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Institute
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Department of Medical Genetics
University of Groningen,
Faculty of Medical Sciences
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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