Mutation Details for c.100_117delTTGTCAGACATATACCAA
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cDNA Name
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c.100_117delTTGTCAGACATATACCAA
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Protein Name
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p.Leu34_Gln39del
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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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232del18
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Other Details
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The above mutation was detected by SSCA and direct sequencing in a patient from Brazil (Caucasian origin). He carries [delta]F508 on the other chromosome and he presents PI and mild lung disease.
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Contributors
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Faucz F,
Raskin S,
Casals T,
Ramos MD,
Gimenez J,
Nunes V,
Estivill X
1996-09-25
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Institute
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Lab. Genetika, Curitiba, Brazil;
IRO, Barcelona, Spain
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Submitted Phenotype Details
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Reference
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Faucz et al. (NL#69)
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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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