Childhood Onset Survey 2022 Report - Flipbook - Page 11
Shared variants: discovering trends, including shared variants
What is a variant? A variant tells the researcher where on the gene the
error is. A goal of the survey is to identify shared variants; two or more
unrelated individuals that share the exact same variant.
The 2022 responses show three variants that are shared by unrelated
individuals.
Within SPG4:
p.Arg499His
c.1496G>A
De novo
p.Arg499His
c.1496G>A
De novo
p.Arg499His
c.1496G>A
De novo
p.Arg499His
c.1496G>A
De novo
p.Met390Val
c.1168A>G
De novo
p.Met390Val
c.1168A>G
De novo
p.Met390Val
c.1168A>G
De novo
Within SPG3a:
p.Lys407del
c.1220_1222del
De novo
p.Lys407del
c.1220_1222del
De novo
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