Mutation Details for c.4056G>T
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cDNA Name
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c.4056G>T
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Protein Name
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p.Gln1352His
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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Q1352H(G->T)
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Other Details
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This change has been detected by SSCP/HD analysis and direct sequencing in one Spanish chromosome
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Contributors
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Contributors MD. Ramos, J. Gimenez, T. Casals
2004-12-29
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Institute
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CGMM-IRO. Barcelona. Spain
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Submitted Phenotype Details
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Male newborn with hypertrypsinemia. He presents the genotype [R117H] + [Q1352H (G>T)] and the I807M change without defined phase. (pers. corr. T. Casals)
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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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