Mutation Details for c.1679+1G>C
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cDNA Name
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c.1679+1G>C
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1811+1G->C
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Other Details
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The mutation was detected by DGGE, followed by direct sequencing of amplified DNA. It can also be detected by Alul digestion. The mutation was found in a Cystic Fibrosis patient of Macedonian ethnic group whose other chromosome carries the [delta]F508 mutation. The mutation was found once among 42 non-[delta] CF chromosomes.
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Contributors
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Petreska L,
Koceva S,
Efremov GD
1992-10-10
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Institute
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Macedonian Academy of Sciences and Arts
Skopje, Republic of Macedonia
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Submitted Phenotype Details
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The patient (2y at the time of genetic analysis) was diagnosed at 2 months of age. The patient is PI, has sweat chloride 240 mmol/l, bilateral bronchopneumonia, emphysema and Pseudomonas Aeruginosa colonization. The patient carries deltaF508 on the other allele.(Petreska et al. 1996)
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Reference
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Petreska et al. (NL#50)
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