Mutation Details for c.1381G>A
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Note: this mutation was submitted but not yet reviewed by our curator.
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cDNA Name
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c.1381G>A
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Protein Name
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p.Gly461Arg
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Exon or Intron
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Other Details
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Contributors and Institutes
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| Maria D. Ramos, Teresa Casals | - | Human Molecular Genetics Group | | Bellvitge Biomedical Research Institute (IDIBELL) | - | Barcelona. Spain |
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Submitted Phenotype Details
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CF patient 41 years old, diagnosed at 8y., chloride sweat concentration 105mmol/L, pancreatic insufficient, lung disease, ABPA.
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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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