Mutation Details for c.1029delC
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cDNA Name
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c.1029delC
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Protein Name
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p.Cys343X
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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1161delC
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Other Details
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The mutation was detected by direct DNA sequencing and is a single base deletion of a cytosine at position 1161 of the CFTR gene. This results in the immediate production of a chain termination codon in codon 343.
The mutation was seen in a homozygous form in a female Pakistani child who died at the age of 14 months; cystic fibrosis was diagnosed post mortem. The parents are first cousins and ahve both been confirmed to carry the 1161delC mutation. The mutation is associated with 6 repeats of the IVS6aTTGA VNTR, and 17 repeats of the IVS8CA VNDR.
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Contributors
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Parveen T,
Schwarz M,
Malone G,
Super M
1992-11-08
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Institute
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Royal Manchester Children's Hospital
Pendlebury. England
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Submitted Phenotype Details
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Reference
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Parveen et al. (NL#50)
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