Mutation Details for c.273+1G>A
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cDNA Name
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c.273+1G>A
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Exon or Intron
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intron 3
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Legacy Exon or Intron
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intron 3
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405+1G->A
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Other Details
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This mutation was found in a German PI patient with [delta]F508 on the other allele. The patient carries haplotype C and the rare polymorphism at codon T966.
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Contributors
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Dork T,
Tummler B
1992-08-11
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Phenotype Information
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CFTR2
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Reference
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Dörk et al. 1993e
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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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