Mutation Details for c.3434G>A
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cDNA Name
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c.3434G>A
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Protein Name
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p.Trp1145X
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Exon or Intron
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exon 21
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Other Details
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The mutation was detected by dHPLC analysis and characterised by direct sequencing.
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Contributors and Institutes
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| Picci L. | - | Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy | | Cameran M. | - | Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy | | Marangon O. | - | Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy | | Marzenta D. | - | Centro Malattie Rare, Dipartimento Pediatria, Padova, Italy | | Mattina T. | - | Genetica Medica, Policlinico Catania, Italy |
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Submitted Phenotype Details
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This mutation has been identified in a CF South Italian patient (F, 32y): she had positive sweat test, no other clinical data available.She carries 3659delC on the other allele.Her CF brother (25y) has same mutations.
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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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