Mutation Details for c.1766+1G>C
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cDNA Name
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c.1766+1G>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+1G->C
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Other Details
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The 1898+1G->C splice mutation (5'-G/C-TATGTTCTTTGAA-3') in intron 12 was found in 1 out of 63 unrelated Belgian CF chromosomes (14 [delta]F508 and 49 non-[delta]F508 CF chromosomes). This is the second mutation reported in which the nucleotide at position 1898+1 is mutated (1898 +1G->A; Strong et al., NL #31).
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Contributors
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Cuppens H,
Marynen P,
Cassiman JJ
1991-11-15
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Institute
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Center for Human Genetics
Leuven, Belgium
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Submitted Phenotype Details
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The mutation was found in a 27 years old female CF patient, diagnosed at 11 years of age, who is PI, has sweat chloride 113 mmol/l and mild pulmonary disease (FEV1 79%). She carries deltaF508 on the other allele. (pers corr. DeBoeck)
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Reference
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Cuppens et al. 1993
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