Mutation Details for c.829T>A
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cDNA Name
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c.829T>A
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Protein Name
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p.Trp277Arg
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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W277R
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Other Details
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This mutation, in exon 6b, was detected by SSCA analysis and identified by direct sequencing. The W277R (A>G at 961) mutation was found in one argentinean patient who carries the F508del mutation on the other allele. It was not found on 78 non-F508del CF chromosomes.
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Contributors
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Oller Ramirez A, Ramos MD, Gimenez J, Ghio A, Dodelson de Kremer R, Casals T
2004-05-11
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Institute
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Center for the Study of the Inherited Metabolic Disease,
CEMECO,
Medical Sciences Faculty,
National University of Cordoba,
Children's Hospital,
Argentina and CGMM-IRO,
Barcelona, Spain.
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Submitted Phenotype Details
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The female patient was diagnosed at 11 months old, is PI and has mild pulmonary disease. She is 4 years old and she has not had lung colonization episodes.
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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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