Mutation Details for c.1643T>A
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cDNA Name
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c.1643T>A
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Protein Name
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p.Leu548Gln
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Exon or Intron
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exon 12
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Legacy Exon or Intron
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exon 11
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L548Q
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Other Details
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Contributors
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E. Girodon, P. Fanen, C. Costa, F. Niel, M. Goossens
2004-01-21
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Institute
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Biochimie-GŽnŽtique, h™pital Henri-Mondor, CrŽteil, France
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Submitted Phenotype Details
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This mutation was identified in a Japanese partner of a CF carrier bearing 3849+10kbC>T. It occurs in the very conservative motif "LSGG" of NBF1, signature of the ABC proteins. It was thus considered as a highly likely CF mutation. The couple requested PND and the fetus was compound heterozygote. Fetal analysis was however not conclusive for CF, but the analysis was hampered by pancreas lysis. In other respects, pancreatic anomalies characteristic for CF may not be observed when the 3849+10kbC>T is present.
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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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