Mutation Details for c.2968_2969insA
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cDNA Name
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c.2968_2969insA
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Protein Name
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p.Thr990AsnfsX4
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Exon or Intron
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exon 18
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Legacy Exon or Intron
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exon 16
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3100insA
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Other Details
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This mutation was detected in a severely affected PI German CF patient with [delta]F508 on the other allele. The insertion co-inherited with the XV-2c/KM.19 haplotype C and with seven GATT repeats. It creates a Mse I site.
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Contributors
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Dork T,
Bosshammer J,
Tummler B
1992-11-23
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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The patient (male, 8) was diagnosed at 2y3m with CF; he is PI, has FEV1 70% and Pseudomonas Aeruginosa infections. He carries DelF508 on the other allele.
(pers.corr. Doerk)
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Reference
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Dörk et al. 1994b
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