Mutation Details for c.3_122del120ins300
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cDNA Name
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c.3_122del120ins300
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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135del120ins300
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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 homozygous female CF patient (2y8m) was diagnosed when 1y7m old. She has severe lung disease, is PI and has liver disease. (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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