Mutation Details for c.2538G>A
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cDNA Name
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c.2538G>A
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Protein Name
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p.Trp846X
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Exon or Intron
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exon 15
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Legacy Exon or Intron
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exon 14a
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W846X (2670TGG>TGA)
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Other Details
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This mutation is associated with haplotype A (caucasian) and is not detected in 47 other non-[delta]F508 chromosomes, nor in 11 normal or 37 [delta]F508 chromosomes.
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Contributors
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Goossens M,
Vidaud M
1990-03-22
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, France
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Phenotype Information
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CFTR2
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Reference
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Vidaud et al. 1990
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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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