Mutation Details for c.958T>G

cDNA Name c.958T>G 
Protein Name p.Leu320Val 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name L320V 
Other Details The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient is presented with congenital absence of vas deferens and has [delta]F508 on the other chromosome. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1995-10-06
Institute Groupe Hôspitalier Cochin, Paris 
Submitted Phenotype Details One patient, male, diagnosed with CBAVD, no pulmonary symptoms, PS. R117H on the other allele. (pers.corr. Bienvenu) 
Reference Bienvenu et al (NL#67) 

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The Database was last updated at Apr 25, 2011