Mutation Details for c.3546C>G
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cDNA Name
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c.3546C>G
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Protein Name
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p.Tyr1182X
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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Y1182X
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Other Details
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A nonsense mutation was found in exon 19 of CFTR. Y1182X creates a novel MbolI restriction site in exon 19. Y1182X was detected by SSCP/heteroduplex analysis and was observed once in CF patient referred for rare mutation analysis from the Yorshire Regional DNA Laboratory in Leeds.
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Contributors
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Wallace A,
Tassabehji M
1994-09-27
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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#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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