GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
CD46 S13Finsufficiently evaluated not reviewed, f=0.002unknown var-GS18942-1100-36-ASM
CD46 S294Finsufficiently evaluated not reviewedunknown
CD46 A309Vinsufficiently evaluated pathogenicother

This variant (also called A304V in the literature) and is associated with Non-Shiga toxin-associated hemolytic uremic syndrome in a dominant manner. Other variants in this gene cause the disease and this variant was identified in 7 patients with related phenotypes, but there is not enough data to determine significance. According to the GeneReviews entry, penetrance is 54%, and expression usually occurs before adulthood.

(2 web hits)

CD46 S309Finsufficiently evaluated not reviewedunknown
CD46 A323Vinsufficiently evaluated noneunknown

(1 web hit)

CD46 A324Vinsufficiently evaluated noneunknown

(1 web hit)

CD46 A338Vinsufficiently evaluated noneunknown

(1 web hit)

CD46 A339Vinsufficiently evaluated noneunknown
CD46 A353Vinsufficiently evaluated none, f=0.012unknown

(3 web hits)

CGI sample GS01175-DNA_D03 from PGP sample 27486199
Total results: 9

Gene search

"GENE" or "GENE A123C":

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