Mutation Details for c.2909-1G>A
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cDNA Name
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c.2909-1G>A
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Exon or Intron
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intron 17
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Legacy Exon or Intron
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intron 15
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3041-1G->A
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in a 4-year old female CF patient whose other mutation is [delta]F508. 3041-1G->A was seen only once in 80 non-[delta]F508 chromosome screened.
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Contributors
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Malone G,
Hawworth A,
Schwarz M
1995-08-03
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Institute
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Royal Manchester Children's Hospital,
England
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Submitted Phenotype Details
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The patient (female, born in March 1991) was diagnosed with CF. She had meconium ileus. She carries DelF508 on the other allele.
(pers. corr. Malone)
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Reference
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Malone et al (NL#67)
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