Mutation Details for c.3039_3040insC
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cDNA Name
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c.3039_3040insC
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Protein Name
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p.Tyr1014LeufsX33
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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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3171insC
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Other Details
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The insertion 3171ins C has been found in a female who carries the [delta]F508 mutation on the other chromosome.
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Contributors
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Grade K,
Grunewald I,
Coutelle C
1993-10-03
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Institute
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Max-Delbruck-Centrum fur Molekulaire Medizin
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Submitted Phenotype Details
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Reference
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Grade et al. 1994
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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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