Mutation Details for c.3275A>G

cDNA Name c.3275A>G 
Protein Name p.Tyr1092Cys 
Exon or Intron exon 20 
Legacy Exon or Intron exon 17b 
Legacy Name Y1092C 
Other Details The mutation was published in Hum Genet. 2004 Mar;114(4):403. 
Contributors Trujillo-Tiebas MJ; Gallego J; Garc?a M; Lorda-S?nchez I; Ramos C; Ayuso C.   2005-11-09
Institute Genetics Department; Fundaci?n Jim?nez D?az -Capio Madrid; Spain  
Submitted Phenotype Details The mutation was identified in one asymptomatic Spanish woman. This mutation destroys a restriction site for Rsa-I enzyme and changes Tyr to Cys amino acid probably implying pathological consequencies. Prenatal diagnosis was indicated because she was pregnant and her husbund was a delta F508 mutation carrier.  

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The Database was last updated at Apr 25, 2011