Mutation Details for c.2502T>G
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cDNA Name
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c.2502T>G
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Protein Name
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p.Phe834Leu
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Exon or Intron
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exon 15
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Other Details
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The patient is compound heterozygote, the second mutation is A to C at 18126 (p.R560S); the mutation was detected after sequencing of the whole CFTR gene and was detected only once in our cohort of CF-patients
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Contributors and Institutes
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| Wagner Klaus | - | Medical University Graz, Institute of Human Genetics |
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Submitted Phenotype Details
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The female patient was born 1988, parents are from India and were not available for analysis. Sweat test was borderline, PS
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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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