Mutation Details for c.3367+2T>C
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cDNA Name
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c.3367+2T>C
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Exon or Intron
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intron 20
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Legacy Exon or Intron
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intron 17b
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3499+2T->C
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Other Details
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A mutation at 3499+2 T->C which may affect the splice site, in a CF patient who carries a [delta]F508 on the other chromosome. The mutation has been confirmed by dot blots with a specific oligonucleotide.
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Contributors
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Creegan R,
Edkins E
1994-11-21
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Institute
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null
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Submitted Phenotype Details
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Reference
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Creegan & Edkins (NL#64)
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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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