Mutation Details for c.3139+101C>G
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cDNA Name
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c.3139+101C>G
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Exon or Intron
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intron 19
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Legacy Exon or Intron
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intron 17a
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3271+101C/G
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Other Details
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No further comment.
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Contributors
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Bozon D
1998-03-19
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Institute
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Hopital Debrousse,
Lyon, France
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Submitted Phenotype Details
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3850-79T/C and 3271+101C/G were identified in a CBAVD patient who
also had F508, 5T/9T, and many other SNP : P1290P, I1027T : but we do
not know on which allele. We also think that these 2 changes are
polymorphisms. The male individual was PS, with no lung disease. (pers. corr. Bozon)
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Reference
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Bozon (NL#70)
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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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