{"id":25984,"date":"2020-06-08T10:23:08","date_gmt":"2020-06-08T07:23:08","guid":{"rendered":"https:\/\/www.asperbio.com\/asper-neurogenetics-testid\/spinotserebellaarne-ataksia-2\/list-of-non-coding-variants-covered-by-spinocerebellar-ataxia-ngs-panel\/"},"modified":"2020-11-23T12:27:37","modified_gmt":"2020-11-23T10:27:37","slug":"list-of-non-coding-variants-covered-by-spinocerebellar-ataxia-ngs-panel","status":"publish","type":"page","link":"https:\/\/www.asperbio.com\/et\/asper-neurogenetics-testid\/p%C3%A4rilik-ataksia-2\/p%C3%A4riliku-ataksia-paneeli-mittekodeerivad-geneetilised-variandid\/","title":{"rendered":"P\u00e4riliku ataksia paneeli mittekodeerivad geneetilised variandid"},"content":{"rendered":"

P\u00e4riliku ataksia paneeli
\nmittekodeerivad geneetilised variandid<\/span><\/h2>\n
\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Geen<\/strong><\/td>\nMuutus<\/strong><\/td>\n<\/tr>\n
AMT<\/em><\/td>\nc.-55C>T<\/td>\n<\/tr>\n
ATM<\/em><\/td>\nc.-30-1G>T<\/td>\n<\/tr>\n
ATM<\/em><\/td>\nc.2639-384A>G<\/td>\n<\/tr>\n
ATM<\/em><\/td>\nc.2839-579_2839-576delAAGT<\/td>\n<\/tr>\n
ATM<\/em><\/td>\nc.5763-1050A>G<\/td>\n<\/tr>\n
CACNA1A<\/em><\/td>\nc.631+5G>A<\/td>\n<\/tr>\n
CACNA1A<\/em><\/td>\nc.4093-3C>G<\/td>\n<\/tr>\n
CACNA1A<\/em><\/td>\nc.5403+2T>C<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.2991+1655A>G<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.1910-11T>G<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.1066-1G>A<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.1190-2A>G<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.2052+1_2052+2delGT<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.4438-3delC<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.4813-2A>G<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.3461+1G>A<\/td>\n<\/tr>\n
CEP290<\/em><\/td>\nc.6135+2T>A<\/td>\n<\/tr>\n
COQ8A<\/td>\nc.*72dupG<\/td>\n<\/tr>\n
DARS<\/em><\/td>\nc.228-22T>A<\/td>\n<\/tr>\n
GSS<\/em><\/td>\nc.-9+5G>A<\/td>\n<\/tr>\n
KCNJ10<\/em><\/td>\nc.-1+1G>T<\/td>\n<\/tr>\n
OFD1<\/em><\/td>\nc.935+706A>G<\/td>\n<\/tr>\n
OFD1<\/em><\/td>\nc.1130-22_1130-19delAATT<\/td>\n<\/tr>\n
OFD1<\/em><\/td>\nc.413-10T>G<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.142-14C>G<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-52+1G>A<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-52+5delG<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-52+3_-52+6delAAGTinsTG<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-52+3_-52+4delAA<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-128-2delA<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-129+2T>A<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-129+1G>A<\/td>\n<\/tr>\n
PAX6<\/em><\/td>\nc.-138_-129+3delCCTCATAAAGGTG<\/td>\n<\/tr>\n
PEX7<\/em><\/td>\nc.-45C>T<\/td>\n<\/tr>\n
PNKP<\/em><\/td>\nc.1386+49_1387_33delCCTCCTCCCCTGACCCC<\/td>\n<\/tr>\n
SERAC1<\/em><\/td>\nc.92-165C>T<\/td>\n<\/tr>\n
SERAC1<\/em><\/td>\nc.92-239G>C<\/td>\n<\/tr>\n
SLC2A1<\/em><\/td>\nc.680-11G>A<\/td>\n<\/tr>\n
SLC52A2<\/em><\/td>\nc.-110-1G>A<\/td>\n<\/tr>\n
STUB1<\/em><\/td>\nc.*240T>C<\/td>\n<\/tr>\n
SYNE1<\/em><\/td>\nc.15918-12A>G<\/td>\n<\/tr>\n
TMEM231<\/em><\/td>\nc.824-11T>C<\/td>\n<\/tr>\n
TPP1<\/em><\/td>\nc.887-18A>G<\/td>\n<\/tr>\n
TTC19<\/em><\/td>\nc.-42G>T<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<\/div>","protected":false},"excerpt":{"rendered":"

P\u00e4riliku ataksia paneeli mittekodeerivad geneetilised variandid Geen Muutus AMT c.-55C>T ATM c.-30-1G>T ATM c.2639-384A>G ATM c.2839-579_2839-576delAAGT ATM c.5763-1050A>G CACNA1A c.631+5G>A CACNA1A c.4093-3C>G CACNA1A c.5403+2T>C CEP290 c.2991+1655A>G CEP290 c.1910-11T>G CEP290 c.1066-1G>A CEP290 c.1190-2A>G CEP290 c.2052+1_2052+2delGT CEP290 c.4438-3delC CEP290 c.4813-2A>G CEP290 c.3461+1G>A CEP290 c.6135+2T>A COQ8A c.*72dupG DARS c.228-22T>A GSS c.-9+5G>A KCNJ10 c.-1+1G>T OFD1 c.935+706A>G OFD1 c.1130-22_1130-19delAATT OFD1 […]<\/p>\n","protected":false},"author":2,"featured_media":0,"parent":14927,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_monsterinsights_skip_tracking":false,"_monsterinsights_sitenote_active":false,"_monsterinsights_sitenote_note":"","_monsterinsights_sitenote_category":0,"footnotes":""},"class_list":["post-25984","page","type-page","status-publish","hentry"],"aioseo_notices":[],"aioseo_head":"\n\t\t\n\t\n\t\n\t\n\t\n\t\t