Mutation Details for c.3194T>G
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cDNA Name
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c.3194T>G
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Protein Name
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p.Leu1065Arg
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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L1065R
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Other Details
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L1065R was observed by direct sequencing after detection of an abnormal DGGE pattern. The CF patient is a 6-year old girl with PI, carrying [delta]F508 mutation in the other chromosome.
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Contributors
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Casals T,
Ramos M D,
Gimenez J,
Nunes V,
Estivill X
1995-12-12
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Institute
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IRO,
Spain
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Submitted Phenotype Details
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Patient (F) is 6y, has PI and sweat-chloride levels of 80mM/l.
DeltaF508 was found on the other allele.
(Pers.corr. Casals)
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Reference
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Casals et al (NL#67)
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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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