Mutation Details for c.2062A>T
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cDNA Name
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c.2062A>T
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Protein Name
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p.Lys688X
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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K688X
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Other Details
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This mutation has been identified in a Spanish child from the Neonatal Screening Programme
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Contributors
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J. Gimenez, M.D. Ramos, T. Casals
2006-08-30
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Institute
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CGMM-IRO
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Submitted Phenotype Details
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The patient (male, 1y) presents positive sweat test, pancreatic insufficiency and the genotype [G542X] + [K688X].
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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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