Mutation Details for c.2836A>T
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cDNA Name
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c.2836A>T
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Protein Name
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p.Lys946X
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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K946X
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Other Details
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The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in a boy whose other (paternal) CF mutation is still unknown. He is of (very) mixed parentage, his maternal grandparents being Mexican/American Indian and French/English. We have seen K946X only once, in this family referred by the South West Thames Regional Genetics Service.
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Contributors
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Haworth A,
Schwarz M,
Malone G
1996-06-10
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Institute
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Royal Manchester Children's Hospital,
England.
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Submitted Phenotype Details
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The patient (male, born in September 1994) has seat test positive. He carries A559T on the other allele.
(pers.corr. Schwarz)
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Reference
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Haworth et al. (NL#69)
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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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