Mutation Details for c.2998_3012del
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cDNA Name
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c.2998_3012del
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Protein Name
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p.Ile1000_Ile1005del
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Exon or Intron
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exon 19
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Legacy Exon or Intron
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exon 17a
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3130del15
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Other Details
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Contributors
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Doerk T.
2002-01-01
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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 male CF patient (8 years old) was diagnosed at 6 months of age. He is PI and had sweat chloride 110 mmol/l. He carries deltaF508 on the other allele. (pers. corr. Doerk)
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Reference
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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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