Mutation Details for c.1210-13G>T
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cDNA Name
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c.1210-13G>T
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Exon or Intron
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intron 9
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Legacy Exon or Intron
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intron 8
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1342-13G/T
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Other Details
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The 1342-13G->T polymorphism in intron 8 was found in 12 out of 30 unrelated Belgian CF chromosomes. This polymoporphic nucleotide is localized in the last repeat of the (GT)12 dinucleotide repeat locus.
Update:
In the list 'DNA sequence polymorphisms in the noncoding regions of the CFTR gene', 1342-13G/T was described in intron 8. This is in fact the allele resulting in T9, compared to the published sequence which is a T7 allele. At that moment the nomenclature T5, T7 and T9 for the Tn did then not exist.
(pers. corr. Cuppens)
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Contributors
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Cassiman JJ,
Cuppens H,
Marynee P
1992-03-04
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Institute
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University of Leuven
Leuven, Belgium
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Submitted Phenotype Details
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This is the T9 allele of the polymorphic Tn locus at the end of intron 8. No additional clinical data available. (pers. corr. Cuppens)
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Reference
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Cassiman et al. (NL#43)
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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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