Mutation Details for c.165-67A>C
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cDNA Name
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c.165-67A>C
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Exon or Intron
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intron 2
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Legacy Exon or Intron
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intron 2
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297-67A/C
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Other Details
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This polymorphism was identified by direct DNA sequencing. We believe the polymorphism to be fairly uncommon. In at least 20 chromosomes screened, we have seen it once in heterozygous form and once in homozygous form in a CF patient of Pakistani origin.
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Contributors
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Haworth A,
Malone G,
Schwarz M
1994-11-18
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Institute
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Manchester Children's Hospital
Pendlebury, England
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Submitted Phenotype Details
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Reference
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Haworth et al. (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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