Mutation Details for c.4197C>G
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cDNA Name
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c.4197C>G
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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4329C/G
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Other Details
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This sequence variation has not been observed on over 1000 CFTR genes.
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Contributors
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Angius A., Stasi M., Bitetti M., Furbetta M.
2008-06-03
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Institute
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Sez. Clinica di Pediatria Medica e Chirurgica, Lab. Genetica Molecolare, Università degli Studi di Perugia, Italy
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Submitted Phenotype Details
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This sequence variation was found in a 47 years old male from Camerum who was studied for couple’s infertility. He had a normal semen analysis. (detected by DGGE analysis and confirmed by Sequencing)
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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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