Mutation Details for c.263T>G
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cDNA Name
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c.263T>G
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Protein Name
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p.Leu88X
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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L88X(T->G)
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Other Details
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The patient is a 5 year old boy of Korean-American origin. The paternal Caucasian-American chromosome carries the [delta]F508 mutation. L88X was inherited rom the patient's Korean mother. The patient is Pi and was diagnosed with CF at birth because of meconium ileus. Diagnpstic sweat chloride was 97 mM. His growth and pulmonary status are normal to date. This mutation was not observed in five other Asian, 90 Caucasian, or 50 African-American CF chromosomes.
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Contributors
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Macek MJr,
hamosh A,
Cutting GR
1992-08-20
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Institute
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Johns Hopkins Medical Institution
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient (male, 5y) was diagnosed at birth, had meconium ileus, no lung involvment, sweat chloride 97 mmol/l, was PI, with normal growth. He carries delF508 on the other allele.
(pers. corr. Macek)
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Reference
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Macek et al. 1992
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