Mutation Details for c.3718-79T>C
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cDNA Name
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c.3718-79T>C
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Exon or Intron
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intron 22
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Legacy Exon or Intron
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intron 19
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3850-79T/C
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Other Details
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No additional information is available.
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Contributors
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Chevalier-Porst F,
Bozon D
1997-10-28
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Institute
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Biochimie, Bat D,
Hopital Debrousse, Lyon, France
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Submitted Phenotype Details
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3850-79T/Cwas found in a male, PS, with nolung disease, CBAVD. 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. (pers. corr. Bozon)
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Reference
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Chevalier-Porst & 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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