Mutation Details for c.57G>T
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cDNA Name
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c.57G>T
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Protein Name
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p.Trp19Cys
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Exon or Intron
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exon 2
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Legacy Exon or Intron
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exon 2
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W19C
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Other Details
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The W19C mutation was detected in a 27 year old African-American CF patient. The other CF allele is the A559T mutation. ASO hybridization screening did not detect this mutation among 94 non-CF chromosomes of African-American CF parents. Although the diagnosis was setablished in the first month of her life, she is pancreatic sufficient and developed lung disease only after her first pregnancy. Her sweat chloride concentration is 111mM.
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Contributors
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Macek MJr,
Mackova A,
Sedriks S,
Cutting GR
1994-04-14
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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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The patient (female, 27) has developed lung disease after pregnancy. She was PS,, sweat chloride 111 mmol/l. A559T on the other allele.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#62)
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