Mutation Details for c.2017G>T
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cDNA Name
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c.2017G>T
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Protein Name
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p.Gly673X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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G673X
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Other Details
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This mutation was detected in a single German cystic fibrosis family. The 24 yrs. old patient is PI and a compund heterozygote for [delta]I507.
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Contributors
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Dork T,
Bosshammer J,
Mekus F,
Tummler B
1992-12-16
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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 (female, 25y) was diagnosed at 2.4 years with CF. She is PI and heterozygous DelI507.
(pers. corr. Doerk)
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Reference
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Dörk et al. 1994b
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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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