|CPN1 L5P||insufficiently evaluated not reviewed||unknown||
(15 web hits)
|CPN1 G178D||uncertain pathogenic, f=0.036||recessive|| |
This rare variant (around 1% allele frequency) is hypothesized to cause carboxypeptidase N deficiency in a recessive manner, especially if combined with a more severe variant. However the findings lack statistical sigificance: only a single case study of an affected individual links this variant to causing the disease. There aren’t any follow-up in vitro studies testing whether this variant affects protein function.
(9 web hits)
|CGI sample GS000006909|
|Total results: 2|