RS137854123 TSC2

Health Risk Chr 16:2056730 snv missense variant
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Associated Conditions
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Tuberous sclerosis syndrome
Tuberous sclerosis 2
Hereditary cancer-predisposing syndrome
Isolated focal cortical dysplasia type II
Population Frequencies
gnomAD ALL
100%
Other Variants in TSC2
rs137854083 rs45483392 rs45512692 rs137854337 rs45517179 rs28934872 rs45517214 rs121964862 rs45517148 rs45516293
Ask Dr. Hemsworth about this variant