Mutation Details for c.743G>C
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cDNA Name
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c.743G>C
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Protein Name
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p.Arg248Thr
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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R248T
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Other Details
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The mutation was detected by DGGE and identified by direct sequencing of a CBAVD patient with [delta]F508 on the other chromosome. The mutation was not observed in 100 other CFTR alleles from 50 unrelated individuals without CF history. The mutation may affect mRNA splicing.
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Contributors
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Scheffer H,
Wu Y,
Hofstra R,
Looman M,
de Jong D,
Buys C
1997-08-22
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Institute
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State University of Groningen,
The Nethelands
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Submitted Phenotype Details
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Reference
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Scheffer et al. (NL#70)
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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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