Mutation Details for c.1094T>C
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cDNA Name
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c.1094T>C
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Protein Name
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p.Leu365Pro
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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L365P
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Other Details
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This mutation was found by SSCA and direct DNA sequencing in a CF patient diagnosed at 3, sweat chloride 79mEq/l, PS. He carries a DF508 in the paternal chromosome.
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Contributors
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Casals T,
Gimenez J,
Ramos M D,
Estivill X
2000-08-02
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Institute
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CGMM
IRO
Barcelona, Spain
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Submitted Phenotype Details
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Patient (M) is 10y, has PS, FEV1=93%, sweat-chloride levels of 79mM/l. He had Meconium Ileus at birth and was 3y when he was diagnosed)
DeltaF508 was found on the other allele.
(Pers. corr. Casals)
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Reference
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Casals et al. 2000
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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