Mutation Details for c.794T>G

cDNA Name c.794T>G 
Protein Name p.Met265Arg 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name M265R 
Other Details 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. 
Contributors Schwarz M, Haworth A, Malone G   1995-02-06
Institute Royal Manchester Children's Hospital, England 
Submitted Phenotype Details One subject (female, born in 1959) died 1 day old with meconium ileus. She had delF508 on the other allele. ( 
Reference Schwarz et al. (NL#65) 

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The Database was last updated at Apr 25, 2011