Mutation Details for c.2620-26A>G
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cDNA Name
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c.2620-26A>G
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Exon or Intron
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intron 15
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Legacy Exon or Intron
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intron 14a
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2752-26A->G
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Other Details
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2752-26A->G was detected by DGGE and identified by direct sequencing out of 472 CF alleles tested. The
patient, of Greek origin, is currently 2.5 years of age. The patient's DNA was also analyzed by DGGE for exons 3, 4, 5, 6a, 7, 8, 10, 11, 12, 14a, 14b, 15, 17b, 18, 19, 20, 21 and for mutation 3849+10kbC->T with HphI, but no other alteration could be detected. 2752-26A->G probably creates an alternative splice site that competes with the normal acceptor site, causing reduction of full length mRNA synthesis.
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Contributors
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Tzetis M,
Antoniadi T,
Kanavakis E
1995-05-30
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Institute
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Athens University First Dept. of Pediatrics
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Submitted Phenotype Details
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The mutation was found in a CF patient (male, 2.5 years old) PS, with no respiratory symptoms and sweat chloride 43-56 mmol/l, whose other mutation was IVS8-5T. (Tzetis et al. 1997)
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Reference
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Tzetis et al. (NL#66)
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