| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common/normal
|
| (C;T)
|
3
|
De novo mutation seen in a Tourette syndrome proband; implied but unproven association
|
rs749318706 is a rare C>T mutation in the WWC1 gene on chromosome 1 which changes an Arg to a Stop codon.
Although not implicated in any direct way as leading to Tourette syndrome, the rs749318706(T) "stop-gain" mutation is one of two mutations listed in the WWC1 gene in a 2017 publication reporting that de novo likely gene-disrupting (LGD) variants in perhaps 400+ genes are associated with Tourette syndrome. This analysis also reported that of all the genes found to contain such variants, the gene most confidently associated with recurring de novo variants was the WWC1 gene.[PMID 28472652
]
]
