Mutation Details for c.1766+3A>C
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cDNA Name
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c.1766+3A>C
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Exon or Intron
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intron 13
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Legacy Exon or Intron
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intron 12
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1898+3A->C
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Other Details
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This mutation was identified by DGGE and direct sequencing. This mutation was identified on one Moroccan CF chromosome.
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Contributors
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Lissens W,
Bonduelle M,
Liebaers I
Ferec C,
Quere I,
Audrezet MP,
Mercier B
1993-03-23
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Institute
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Centre de Transfusion Snaguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a French CF patient (male, 6y) diagnosed at birth, carrying deltaF508 on the other allele. (pers.corr. Ferec)
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Reference
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Mercier et al. 1995
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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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