Mutation Details for c.292C>T
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cDNA Name
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c.292C>T
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Protein Name
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p.Gln98X
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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Q98X
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Other Details
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The above mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was found in homozygous form in 3 apparently unrelated Pakinstani CF patients. Q98X was seen 3 times (although in homozygous form) among 20 Pakistani CF chromosomes. The first of these was from the North-West and the other 2 were referred by the West Midlands Regional Genetics Service at Birmingham.
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Contributors
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Urion A,
Malone G,
Hawworth A,
Schwarz M
1995-08-14
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Institute
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Royal Manchester children's Hospital, England
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Phenotype Information
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CFTR2
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Reference
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Urion et al (NL#67)
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