Mutation Details for c.1679+34G>A
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cDNA Name
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c.1679+34G>A
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Exon or Intron
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intron 12
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Legacy Exon or Intron
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intron 11
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1811+34 G>A
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Other Details
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This mutation in intron 11 was detected by SSCP and was found in an iranian parent who have an affected child that died.
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Contributors
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Mirzajani F, Mojarrad M, Yazdanpanahi N, Mirfakhraiee M, Derakhshandeh-Peykar P
2004-03-15
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Institute
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1) national center for genetic engineering and biotechnology ,Tehran, iran 2) Tehran Medical Mniversity, School of Public Health, Department of Human Genetics,Tehran, iran
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Submitted Phenotype Details
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The individual was suspected to be a carrier. becuase he has an affected child. child has positive sweat test, meconium ileus and respirarory infection and child died becuase of respiratory infection.
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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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