Mutation Details for c.619C>T
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cDNA Name
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c.619C>T
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Protein Name
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p.Gln207X
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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Q207X
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Other Details
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This nonsense mutation was detected by SSCP analysis of DNA amplified by PCR using the following primers: 6ai-5s; 5'-GGAAGATACAATGACACCTG-3' and 6ai-3s; 5'-CTGGTTTTACTAAAGTGGGC-3' (271 bp PCR product). This mutation has been found once among 192 CF chromosomes. Mutation on the other chromosome of the pancreatic insufficient patient is 2183AA->G.
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Contributors
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Zielinski J,
Markiewicz D,
Tsui LC
1993-10-02
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Institute
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Hospital For Sick Children
Toronto, Canada
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Submitted Phenotype Details
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The mutation was found in a PI female CF patient with sweat chloride >80 mmol/l, also carrying 2183AA->G. (pers. corr. Zielenski)
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Reference
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Zielenski et al. (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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