Mutation Details for c.1762G>T
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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.1762G>T
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Protein Name
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p.Glu588X
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Exon or Intron
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Other Details
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The analysis of the complete sequencing of the CFTR gene revealed two different trans variants; c.3266G>A (p.Trp1089* or W1089*) previously reported as a CF-causing variation, and c.1762G>T, which had not been previously reported. The mother was carrier of p.Trp1089*. Since the father was not a carrier of any CF variant, paternity was tested and confirmed using 23 STR genetic markers (paternal probability >99.99 %), revealing that the p.Glu588* is a de novo variant.
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Contributors and Institutes
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| Angélica Martínez-Hernández, Julieta Larrosa, Francisco Barajas-Olmos, Humberto García-Ortíz, Elvia C. Mendoza-Caamal, Cecilia Contreras-Cubas, José Luis Lezana, Lorena Orozco. | - | |
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Submitted Phenotype Details
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The patient is a mexican male whose clinical onset of CF was at one month of age, with pancreatic insufficiency and obstructive lung disease.
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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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