Mutation Details for c.437A>G

cDNA Name c.437A>G 
Protein Name p.His146Arg 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name H146R 
Other Details The above mutation was detected by DGGE analysis using chemical clamps and identified by direct DNA sequencing. The mutation was not found on 100 other non-[delta]F508 CF and 100 non-CF chromosomes. H146R creates an MaeIII site. The patient is an infertile man with congenital bilateral absence of vas deferens and unknown mutation on the other chromosome. 
Contributors Bienvenu T, Bousquet S, Herbulot C, Beldjord C, Kaplan J C   1996-03-15
Institute Laboratoire de Biochimie Génétique, Groupe Hôspitalier Cochin, France 
Submitted Phenotype Details One patient (male,41y) diagnosed at 35y with CBAVD, PS, mild pulmonary disease,sweat chloride 60mmol/l. No other mutation identified.(pers. corr. Bienvenu) 
Reference Bienvenu et al. (NL#68) 

To check if there are any papers published about this mutation/variant on PubMed, please click here.

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011