Mutation Details for c.1210-11T>G
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cDNA Name
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c.1210-11T>G
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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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1342-11TTT->G
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Other Details
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This mutation is a splice site variant preceding exon 9 of the CFTR gene. The change could be designated 1342-11 TTT->G and represents a new allele (TG)13T3 of the plymorphic repeat within the branch-/acceptor-splice site of intron 8 (chu et al.). It is possible that this variant enhances the skipping of exon 9 to a disease-causing grade because it reduces the polypyrimidine tract to only three thymidines. The repeat variant was found in a 12 year old German patient who has recently been diagnosed as having a mild form of CF with [delta]F508 on his other allele. No other mutation has been identified so far in this patient. The (TG)13T3 allele was not observed in further 210 German CF chromosomes and 72 non-CF chromosomes.
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Contributors
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Dörk T,
Tummler B
1993-09-09
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Institute
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Medizinische Hochschule Hannover
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Submitted Phenotype Details
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One male CF patient (13y) diagnosed at 10y, has mild lung disease and is PS/PI.
(pers.corr.Doerk)
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Reference
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Dörk & Tümmler (NL#59)
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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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