Mutation Details for c.2658-2A>G
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cDNA Name
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c.2658-2A>G
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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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2790-2A->G
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Other Details
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This mutation was found by DGGE analysis, followed by sequencing in one patient. The patient was homozygous for the mutation, even if the mutation did nto occur in any other chromosome out of a total of 225 from a North East Italian CF cohort.
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Contributors
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Marigo C,
Bombieri C,
Pignatti PF,
Gasparini P,
Bisceglia L,
Zelante L
1994-01-22
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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 homozygous patient (male, 20y) was diagnosed when 13 months old, is PI, has FEV! 22% and malnutrition. (pers. corr. Bombieri)
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Reference
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Marigo et al. (NL#61)
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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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