Mutation Details for c.574_576delGAT
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cDNA Name
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c.574_576delGAT
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Protein Name
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p.Asp192del
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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[delta]D192
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Other Details
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The mutation was detected by DGGE and identified by direct sequencing in 2 siblings with CF. Their other CF allele is 711+1G->T. They are both pancreatic insufficient with sweat chloride of 121 and 95 mEq/L, respectively.
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Contributors
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Feldmann D,
Magnier C,
Chauve C,
Laroze F,
Aymard P,
Grimfeld A
1995-06-13
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Institute
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Hopital D'Enfants Armand-Trousseau
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Submitted Phenotype Details
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Reference
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Feldmann et al. (NL#66)
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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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