Mutation Details for c.1343T>G
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cDNA Name
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c.1343T>G
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Protein Name
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p.Ile448Arg
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Exon or Intron
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exon 10
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Other Details
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Mutation detected by DGGE and sequencing. No other mutation was found
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Contributors and Institutes
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| Javier Gimenez, Loli Ramos, Teresa Casals (CGMM-IDIBELL) | - | Lucrecia Suarez, Adelaida Lamas (CF Unit, Hospital Ramon y Cajal) |
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Submitted Phenotype Details
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The mutation was found in a Spanish newborn by neonatal hypertrypsinemia and hyponatremia. Sweat chloride 100mmol/L
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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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