Mutation Details for c.1175T>C

cDNA Name c.1175T>C 
Protein Name p.Val392Ala 
Exon or Intron exon 9 
Legacy Exon or Intron exon 8 
Legacy Name V392A 
Other Details The above sequence alteration was detected by DGGE using chemical clamps and identified by direct sequencing. V392A was found in a patient presented with congenital absence of vas deferens and [delta]F508 on his other chromosome; it was not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1995-12-15
Institute Groupe Hôspitalier Cochin, Paris 
Submitted Phenotype Details One patient,male, diagnosed with CBAVD, is PS, has normal lung function. He carries delF508 on the other allele. (pers.corr. Bienvenu) 
Reference Bienvenu et al (NL#67, NL#68)  

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The Database was last updated at Apr 25, 2011