GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ACTN2 Q9Rpathogenic, f=0.001dominant

Hypothesized to cause dilated cardiomyopathy in a dominant manner, but observations lack statistical significance.

(5 web hits)

CGI sample GS01173-DNA_D06 from PGP sample 69488604
ACTN2 Y286Xinsufficiently evaluated not reviewed, f=0.008unknown var-GS18956-1100-36-ASM
ACTN2 R307Qinsufficiently evaluated not reviewedunknown

(1 web hit)

ACTN2 R327Hinsufficiently evaluated not reviewed, f=0.008unknown var-GS19017-1100-36-ASM
ACTN2 D475Ninsufficiently evaluated not reviewed, f=0.000unknown var-GS18940-1100-36-ASM
ACTN2 E583Ginsufficiently evaluated not reviewed, f=0.008unknown var-GS19735-1100-36-ASM
ACTN2 M604Vinsufficiently evaluated none, f=0.022unknown var-GS18502-1100-36-ASM
Total results: 7

Gene search

"GENE" or "GENE A123C":

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