Mutation Details for c.489+3a>G
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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.489+3a>G
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Exon or Intron
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Other Details
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Pathogenicity of c.493+3A>G variant (621+3A>G) disputed using functional splicing assay and by allelic frequency
See: Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. Is CFTR 621+3 A>G a cystic fibrosis causing mutation? J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115.
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Contributors and Institutes
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| Forzan M, Salviati L, Pertegato V, Casarin A, Bruson A, Trevisson E, Di Gianantonio E, Clementi M. | - | |
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Submitted Phenotype Details
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Healthy
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Reference
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J Hum Genet. 2010 Jan;55(1):23-6. doi: 10.1038/jhg.2009.115
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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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