Mutation Details for c.2909G>A
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cDNA Name
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c.2909G>A
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Protein Name
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p.Gly970Asp
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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G970D
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Other Details
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The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is an 8 nt deletion in exon 4. Further patient information will be reported.
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(Corrected August 4, 1997)
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Contributors
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Vassilakis A,
Hurlock G,
Wagner J,
Moss R,
Wine J J
1997-04-13
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Institute
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Stanford University
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Submitted Phenotype Details
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The 23 year-old chinese female CF patient is PS, has moderate lung disease (FEV1 60%) and sweat chloride 104 mmol/l. She carries 451del8 on the other allele.(pers. corr. Wine and Wagner J. et al 1999)
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Reference
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Vassilakis et al. (NL#69)
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