TXNDC15 thioredoxin domain containing 15

Canonical transcript: NM_024715

12 unique variant annotations were identified in 9 publications

Variant ID cDot pDot Consequence Exon Intron Reference Count
5-134210221-G-A c.103+1G>A - IntronicSNV - 1/4 2
5-134223492-C-CC c.211dup p.Gln71Profs*32 Frameshift 2/5 - 1
5-134223593-A-G c.312A>G p.Lys104Lys Synonymous 2/5 - 2
5-134223789-C-G c.508C>G p.Leu170Val Missense 2/5 - 1
5-134223815-G-C c.534G>C p.Glu178Asp Missense 2/5 - 1
5-134223815-G-T c.534G>T p.Glu178Asp Missense 2/5 - 1
5-134229225-T-C c.635T>C p.Leu212Pro Missense 3/5 - 1
5-134229263-CAGTTTGGCCCCTCAC-C c.673_687del p.Ser225_His229del InFrameDeletion 3/5 - 2
5-134229275-TCAC-T c.685_687del p.His229del InFrameDeletion 3/5 - 2
5-134235248-T-TT c.956dup p.Ser321Lysfs*15 Frameshift 5/5 - 1
5-134235613-A-C c.*238A>C - 3-UTRSNV 5/5 - 1
5-134236100-T-C c.*725T>C - 3-UTRSNV 5/5 - 1