Mutation Details for c.2977G>T
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cDNA Name
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c.2977G>T
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Protein Name
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p.Asp993Tyr
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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D993Y
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Other Details
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The above mutation was found by DGGE and then direct sequencing of DNA from a patient with severe phenotype from Southern France.
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Contributors
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Claustres M,
Desgorges M,
Carles S
1995-08-04
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Institute
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Institut de Biologie Montpellier
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Submitted Phenotype Details
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Patient (M) is 16y, has PI, severe lung disease and positve sweat-chloride test.
DeltaF508 was found on the other allele.
(Pers. corr. Claustres)
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Reference
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Claustres 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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