GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CPN1 L5Pinsufficiently evaluated not reviewedunknown

(15 web hits)

CPN1 G178Duncertain pathogenic, f=0.036recessive

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
var-GS19648-1100-36-ASM
Total results: 2

Gene search

"GENE" or "GENE A123C":

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