Mutation Details for c.3139+181t>A
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cDNA Name
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c.3139+181t>A
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Dr. Christofer Konialis, | - | InterGenetics-Diagnostic Genetics Centre, Athens, Greece |
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Submitted Phenotype Details
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Identified in a 10 month old Greek boy with a reported positive sweat chloride test and very mild symptoms. No other substitution or deletion was identified by complete gene sequencing and MLPA
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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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