Table 1 WD variants search engine (WilsonGen).
From: WilsonGen a comprehensive clinically annotated genomic variant resource for Wilson’s Disease
Variant | 13-52520526-C-T, 13:52518390:G:A |
|---|---|
Gene | ATP |
Amino acid change | R952K, S693Y, W939C |
Region | 13-52532633-52532646, 13-52516569-52516568, 13-52516633 |
dbSNP ID | rs121907994, rs732774 |
