Mutation Details for c.488delA
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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.488delA
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Protein Name
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p.Lys163ArgfsX3
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Exon or Intron
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Other Details
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The c.487delA mutation was detected by NGS (Next Sequencing Generation) and validated by Sanger sequencing in a Brazilian CF patient with PI, carrying [delta]F508 on the other chromosome.
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Contributors and Institutes
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| Cambraia A | - | Human Genetics Laboratory/Oswaldo Cruz Institute/FIOCRUZ | | Cabello, GMK | - | Human Genetics Laboratory/Oswaldo Cruz Institute/FIOCRUZ |
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Submitted Phenotype Details
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The mutation was identified in a Brazilian CF patient (female, 7y) diagnosed at 5 months of age, being PI and having positive sweat tests. She carries deltaF508 on the other allele.
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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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