Mutation Details for c.3761T>G
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cDNA Name
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c.3761T>G
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Protein Name
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p.Leu1254X
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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L1254X
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Other Details
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This nonsense mutation, L1254X (T->G at position 3893), creates a Sau3 site in exon 20. This mutation was observed once in an English CF patient and was detected by SSCP/heteroduplex analysis followed by direct sequencing.
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Contributors
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Wallace A,
Tassabehji M
1993-08-04
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Institute
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St. Mary's Hospital
Manchester UK
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Submitted Phenotype Details
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Reference
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Wallace & Tassabehji (NL#58)
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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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