Mutation Details for c.489G>A
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cDNA Name
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c.489G>A
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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621G->A
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Other Details
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The 621 G->A splice mutation was detected in a 10 year old Native-African CF patient. Her other allele is the 3120+1 G->A mutation (NL #56 and #59). We presume that this mutation is disease causing since it disrupts the consensus splice donor site at the 3' end of exon 4.
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Contributors
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Mackova A,
Macek MJr,
Cutting GR
1994-10-18
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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Reference
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Mackova et al. (NL#64)
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