Mutation Details for c.794T>G
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cDNA Name
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c.794T>G
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Protein Name
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p.Met265Arg
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Exon or Intron
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exon 7
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Legacy Exon or Intron
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exon 6b
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M265R
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Other Details
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M265R was detected by SSCP and identified by direct DNA sequencing. This mutation was detected in an obligate carrier of CF, whose daughter died at 1 day old with meconium ileus. The child is inferred to have been a compound heterozygote of [delta]F508 and M265R since her father is a carrier of [delta]F508. M265R was found only once in 50 non-[delta]F508 chromosome screened.
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Contributors
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Schwarz M,
Haworth A,
Malone G
1995-02-06
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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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One subject (female, born in 1959) died 1 day old with meconium ileus. She had delF508 on the other allele.
(pers.corr.schwarz)
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Reference
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Schwarz et al. (NL#65)
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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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