Mutation Details for c.2620-22A>G
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cDNA Name
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c.2620-22A>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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2752-22A/G
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Other Details
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This polymoprhism was found by DGGE analysis, followed by sequencing. It creates an Alu I site. The polymoprhism was found in the mother of a CF child, and it was not passed on to the child. It was found once out of 60 North East Italian CF chromosomes screened by DGGE.
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Contributors
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Marigo C,
Bombieri C,
Pignatti PF,
Bonizzato A,
Nicolis E,
Cabrini G
1993-12-07
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Institute
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Istituto di Scienze Biologiche
Verona, Italy
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Submitted Phenotype Details
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The mutation was identified in the no CF mother of a homozygous for 2790-2A->G CF patient. (pers. corr. Bombieri)
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Reference
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Marigo et al. (NL#60)
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