Mutation Details for c.3717+4A>G
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cDNA Name
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c.3717+4A>G
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3849+4A->G
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Other Details
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This is an A->G transition in position 3849+4 of intron 19, which destroys a HpaI site. Although the A in fourth position of the splice donor site is highly conserved, we cannot say whether this mutation causes an aberrant splicing of intron 19 and is therefore responsible for CF in this patient.
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Contributors
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Romeo G,
Ronchetto P,
Telleria JJ,
Devoto M,
Fanen P,
Goossens M
1991-03-01
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Institute
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Istituto Giannina Gaslini
Genoa, Italy
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Submitted Phenotype Details
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The patient has a mild phenotype and carries an unknown mutation on the other chromosome. (Romeo et al. original note)
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Reference
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Ronchetto et al. 1992
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