Mutation Details for c.4045G>A

cDNA Name c.4045G>A 
Protein Name p.Gly1349Ser 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name G1349S 
Other Details The mutation was found using SSCP analysis and direct sequencing. It was detected in one of the CFTR alleles of a Japanese CBAVD patient. The patient has another mutation Q1352H in the other allele. 
Contributors Yoshimura K   1999-03-15
Institute Department of Gene Therapy Institute of DNA Medicine, Jikei University School of Medicine, Tokyo, Japan 
Submitted Phenotype Details Patient (M) is 41, has PS, no lung disease and CBAVD. Q1349S was found on the other allele. (Pers. corr. Yoshimura) 
Reference Yoshimura 1999 

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The Database was last updated at Apr 25, 2011