Mutation Details for c.105_106insA
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cDNA Name
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c.105_106insA
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Protein Name
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p.Asp36ArgfsX9
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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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237insA
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Other Details
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The above mutation was detected by DGGE and identified direct sequencing.
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Contributors
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Férec C,
Verlingue C,
Quere I,
Raguenez O,
Audrézet M-P,
Mercier B
1995-06-08
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Institute
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Centre de Transfusion Sanguine et de Biogénétique,
Brest, France
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Submitted Phenotype Details
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The French CF patient (female, 8y) was diagnosed at birth. Sweat chloride was 75-80 mmol/l. She carries DeltaF508 on the other allele.
(pers.corr. Ferec)
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Reference
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Férec 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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