Mutation Details for c.772A>G

cDNA Name c.772A>G 
Protein Name p.Arg258Gly 
Exon or Intron exon 7 
Legacy Exon or Intron exon 6b 
Legacy Name R258G 
Other Details This mutation was identified by DGGE and direct sequencing. This patient is an infertile male with CBAVD. 
Contributors Ferec C, Quere I, Verlingue C, Audrezet MP< Raguenes O, Guillermit H, Mercier B   1993-06-29
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details (Mercier et all 1995 and pers corr. Ferec) One patient, CBAVD 
Reference Mercier et al. 1995 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.

  • Mercier B, Verlingue C, Lissens W, Silber SJ, Novelli G, Bonduelle M, Audrezet MP, Ferec C   Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.   1995 001;56(1):272-7

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The Database was last updated at Apr 25, 2011