Mutation Details for c.675T>A
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cDNA Name
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c.675T>A
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Protein Name
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p.Cys225X
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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C225X
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Other Details
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No further description.
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Contributors
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Mercier B
1996-08-07
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Institute
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Établissement de Transfusion Sanguine de Bretagne Occidentale, Brest, France
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Submitted Phenotype Details
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The mutation was identified in a French CF patient (female, 6y) diagnosed at birth. Her sweat chloride was 50-55 mmol/l. She carries deltaF508 on the other allele. (pers. corr. Ferec)
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Reference
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Mercier B (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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