Mutation Details for c.4129G>C

cDNA Name c.4129G>C 
Protein Name p.Asp1377His 
Exon or Intron exon 25 
Legacy Exon or Intron exon 22 
Legacy Name D1377H 
Other Details The nucleotide change G->C at position 4261 was found in an infertile man with CBAVD having no manifestation of gastrointestinal or pulmonary disease. This nucleotide substitution destroys a recogntion site for the restriction enzyme BamHI, or MboI. 
Contributors Costes B, Ghanem N, Goossens M   1993-07-08
Institute Hopital Henri Mondor Creteil, France 
Submitted Phenotype Details D1377H, was found in a 46y old M, diagnosed with CBAVD at 35y, PS, also carrying 2622+1G>A. (pers. corr. Girodon) 
Reference Costes et al. (NL#56) 

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The Database was last updated at Apr 25, 2011