Mutation Details for c.2657+3delG
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cDNA Name
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c.2657+3delG
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Exon or Intron
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intron 16
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Legacy Exon or Intron
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intron 14b
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2789+3delG
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Other Details
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The 2789 + 3 delG mutation was detected in an African-American male CF patient. We presume that the deletion of a G at the + 3 position is disease producing since it disrupts the consensus splice donor sequence. The other CF allele is the [delta]F508 mutation. The patient has a typical course of CF with sweat chloride concentration of 56 mM. No other clinical information is available to us.
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Contributors
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Macek MJr,
Mackova A,
Cutting GR
1994-10-19
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient has a typical course of CF with sweat chloride concentration of 56 mM. No other clinical information is available to us.The other CF allele is the [delta]F508.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#63)
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