Mutation Details for c.302T>G
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cDNA Name
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c.302T>G
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Protein Name
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p.Leu101X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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L101X
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Other Details
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The L101X mutation was detected by SSCA and direct sequencing in a Polish CF patient. She is 18 years old and she carries a [delta]F508 on the other chromosome. She presents PI and lung disease with Pseudomonas colonization.
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Contributors
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Casals T,
Gimenez J,
Ramos MD,
Nunes V,
Estivill X,
Bal J
1996-08-20
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Institute
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IRO, Barcelona, Spain; National Research Institute, Warsaw, Poland.
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Submitted Phenotype Details
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The mutation was found in a 18-year old female diagnosed with CF at 2 months of age, also carrying delF508 on the other allele. She is PI has lung disease with PA colonization and sweat chloride of 97mM/l. She also has diabetes. (pers. corr. Casals)
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Reference
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Casals 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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