Mutation Details for c.3629T>A
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cDNA Name
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c.3629T>A
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Protein Name
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p.Met1210Lys
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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M1210K
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Other Details
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This mutation was identified on one CF chromosome of Eastern Europe origin (Romania) . The other chromosome bears a R1066C mutation
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Contributors
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Seia M, Porcaro G, Corbetta C, Padoan R
2004-06-16
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Institute
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Laboratorio Genetica Medica, ICP, Milano Centro Screening Neonatale e Centro Fibrosi Cistica, ICP, Milano
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Submitted Phenotype Details
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The individual (male, 1 year) was diagnosed as CF in the first month of life due to positive neonatal screening. His sweat test is 118 mmol/L chloride, he is pancreatic insufficient.
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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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