Mutation Details for c.3468G>A
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cDNA Name
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c.3468G>A
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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3600G->A
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Other Details
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There is no change of amino acid at position 1156 (Leu1156) of the CFTR, but it may cause aberrant splicing becuase it affects the exon/intron18 donor pslice sequence (TG/gtaagt -> TA/gtaagt). The 3600G->A transition creates a DdeI restriction site and may be analyzed by digestion with this restriction enzyme. The change was found once in 384 chromosomes (289 CF chromosomes and 95 normal chromosomes) tested and occurred in a PS patient with [delta]F508 mutation on the other CF chromosome.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-10-15
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Institute
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Hospital For Sick Children
Toronto, Canada
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Submitted Phenotype Details
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No additional clinical data available. See original note. (pers. corr. Zielenski)
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Reference
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Zielenski et al. 1994
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