Mutation Details for c.1111_1112ins6
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cDNA Name
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c.1111_1112ins6
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Protein Name
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p.Lys370_Ile371insThrLys
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1243ins6
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Other Details
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The above mutation was detected by SSCP analysis of exon 7.
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Contributors
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Shackleton S,
McDowell T,
Harris A
1995-10-04
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Institute
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Institute of Molecular Medicine,
Oxford
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Submitted Phenotype Details
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The male caucasian CF patientwas diagnosed in infancy, presenting with low weight and height at birth. He is PI and no other mutation was identified. (pers. corr. Harris)
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Reference
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Shackleton et al (NL#67)
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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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