TXNDC5 thioredoxin domain containing 5

Canonical transcript: NM_030810

68 unique variant annotations were identified in 37 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
6-7882205-G-A c.*1172C>T - 3-UTRSNV 10/10 - 6
6-7883073-C-T c.*304G>A - 3-UTRSNV 10/10 - 6
6-7883386-G-A c.1290C>T p.Asp430Asp Synonymous 10/10 - 1
6-7883411-C-T c.1265G>A p.Arg422His Missense 10/10 - 1
6-7883412-G-A c.1264C>T p.Arg422Cys Missense 10/10 - 1
6-7883412-G-T c.1264C>A p.Arg422Ser Missense 10/10 - 1
6-7883865-C-T c.1177-366G>A - IntronicSNV - 9/9 1
6-7883916-A-G c.1177-417T>C - IntronicSNV - 9/9 1
6-7884242-G-A c.1176+350C>T - IntronicSNV - 9/9 1
6-7884291-C-T c.1176+301G>A - IntronicSNV - 9/9 1
6-7884652-C-T c.1116G>A p.Ala372Ala Synonymous 9/10 - 2
6-7884665-A-G c.1103T>C p.Phe368Ser Missense 9/10 - 1
6-7885184-C-A c.1047-463G>T - IntronicSNV - 8/9 3
6-7885302-C-T c.1047-581G>A - IntronicSNV - 8/9 2
6-7885340-A-AA c.1047-617dup - IntronicInsertion - 8/9 1
6-7885364-T-C c.1047-643A>G - IntronicSNV - 8/9 1
6-7885797-C-A c.1046+397G>T - IntronicSNV - 8/9 1
6-7885797-C-T c.1046+397G>A - IntronicSNV - 8/9 1
6-7886534-C-T c.964-258G>A - IntronicSNV - 7/9 2
6-7886639-T-C c.964-363A>G - IntronicSNV - 7/9 1
6-7886675-C-CC c.964-398dup - IntronicInsertion - 7/9 1
6-7886905-A-C c.964-629T>G - IntronicSNV - 7/9 3
6-7886905-A-G c.964-629T>C - IntronicSNV - 7/9 3
6-7887131-A-G c.964-855T>C - IntronicSNV - 7/9 3
6-7887223-A-G c.964-947T>C - IntronicSNV - 7/9 3
6-7887945-C-A c.963+993G>T - IntronicSNV - 7/9 1
6-7888066-A-G c.963+872T>C - IntronicSNV - 7/9 1
6-7888168-C-T c.963+770G>A - IntronicSNV - 7/9 2
6-7888251-T-C c.963+687A>G - IntronicSNV - 7/9 1
6-7888328-C-T c.963+610G>A - IntronicSNV - 7/9 3
6-7889012-GTG-G c.890_891del p.Thr297Argfs*19 Frameshift 7/10 - 1
6-7889025-C-T c.876G>A p.Ser292Ser Synonymous 7/10 - 1
6-7889033-C-T c.868G>A p.Val290Met Missense 7/10 - 1
6-7889088-A-G c.820-7T>C - IntronicSNV - 6/9 2
6-7889254-C-T c.820-173G>A - IntronicSNV - 6/9 1
6-7889310-C-T c.820-229G>A - IntronicSNV - 6/9 1
6-7889465-A-G c.819+263T>C - IntronicSNV - 6/9 1
6-7889466-A-G c.819+262T>C - IntronicSNV - 6/9 1
6-7889773-C-CG c.773_774insC p.Gln258Hisfs*59 Frameshift 6/10 - 1
6-7889807-C-G c.740G>C p.Cys247Ser Missense 6/10 - 1
6-7889808-A-T c.739T>A p.Cys247Ser Missense 6/10 - 1
6-7890121-T-G c.733-307A>C - IntronicSNV - 5/9 2
6-7891079-G-A c.732+775C>T - IntronicSNV - 5/9 1
6-7891160-G-T c.732+694C>A - IntronicSNV - 5/9 5
6-7891384-T-C c.732+470A>G - IntronicSNV - 5/9 1
6-7891403-T-C c.732+451A>G - IntronicSNV - 5/9 4
6-7891682-A-C c.732+172T>G - IntronicSNV - 5/9 1
6-7891775-G-A c.732+79C>T - IntronicSNV - 5/9 1
6-7891947-G-A c.639C>T p.Phe213Phe Synonymous 5/10 - 1
6-7892037-G-GC c.617-69_617-68insG - IntronicInsertion - 4/9 1
6-7892143-C-G c.617-174G>C - IntronicSNV - 4/9 2
6-7894695-T-C c.616+644A>G - IntronicSNV - 4/9 2
6-7894794-G-T c.616+545C>A - IntronicSNV - 4/9 2
6-7895783-G-GG c.520-348dup - IntronicInsertion - 3/9 1
6-7896491-A-G c.520-1056T>C - IntronicSNV - 3/9 4
6-7898875-A-G c.519+934T>C - IntronicSNV - 3/9 2
6-7899394-G-A c.519+415C>T - IntronicSNV - 3/9 3
6-7899569-C-G c.519+240G>C - IntronicSNV - 3/9 2
6-7899651-G-A c.519+158C>T - IntronicSNV - 3/9 1
6-7899657-C-T c.519+152G>A - IntronicSNV - 3/9 1
6-7900028-T-C c.414-114A>G - IntronicSNV - 2/9 2
6-7900709-A-G c.414-795T>C - IntronicSNV - 2/9 2
6-7900856-C-T c.414-942G>A - IntronicSNV - 2/9 1
6-7903629-G-A c.413+1178C>T - IntronicSNV - 2/9 1
6-7909967-C-T c.263+780G>A - IntronicSNV - 1/9 2
6-7910352-A-C c.263+395T>G - IntronicSNV - 1/9 1
6-7910865-G-A c.145C>T p.Pro49Ser Missense 1/10 - 1
6-7910942-AG-GC c.67_68delinsGC p.Leu23Ala Missense 1/10 - 1