Mutation Details for c.178G>A
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cDNA Name
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c.178G>A
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Protein Name
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p.Glu60Lys
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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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E60K
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Other Details
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This mutation was found by DGGE and direct DNA sequencing in a CF child who carries the DI507 in paternal CF chromosome. The patient is 5 years old, PS and sweat test 80mEq/l. Her healthy sister carries the DI507 mutation.(Original Note - Casals et al., 2August2000)
The mutation was also reported by Claustres et al., 16November2000 This putative mutation was also detected by DGGE and identified by DNA fluorescent sequencing in an young CF patient from Southern France. She carries the mutation 2790-1G->C on the other chromosome.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Estivill X
Claustres M,
Guittard C,
des Georges M
2000-08-02
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Institute
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CGMM
IRO
Barcelona, Spain
Institut de Biologie Montpellier
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Submitted Phenotype Details
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One patient is 5 years old, PS and sweat test 80mEq/l. Her healthy sister carries the DI507 mutation.(Original Note Casals et al.)
One patient (14 yrs ,female) was diagnosed as newborn (screening), PI, with mild lung disease and sweat chloride of 87 and 91 mEq/l.
2790-1G->C was found on the other allele.(pers. corr. Claustres)
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Reference
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Casals et al. 2000
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