TRMT112

TRMT112 tRNA methyltransferase activator subunit 11-2

Annotation transcript: NM_016404.3

104 unique variant annotations were identified in 77 publications
Gene-Specific Resource Links:
OMIM
Entrez
Ensembl
HGNC
COSMIC
ClinGen
PubMed
GeneReviews
ClinVar
gnomAD v3
gnomAD v2.1
Variant ID cDot pDot Consequence Exon Intron Reference Count
11-64084342-A-G c.369T>C p.T123= Synonymous 4/4 - 1
11-64084350-C-G c.361G>C p.E121Q Missense 4/4 - 1
11-64084355-C-T c.356G>A p.S119N Missense 4/4 - 1
11-64084357-C-A c.354G>T p.L118= Synonymous 4/4 - 1
11-64084357-C-G c.354G>C p.L118= Synonymous 4/4 - 1
11-64084357-C-T c.354G>A p.L118= Synonymous 4/4 - 1
11-64084359-G-A c.352C>T p.L118= Synonymous 4/4 - 1
11-64084366-G-A c.345C>T p.N115= Synonymous 4/4 - 1
11-64084372-G-A c.339C>T p.I113= Synonymous 4/4 - 1
11-64084372-G-T c.339C>A p.I113= Synonymous 4/4 - 1
11-64084374-T-A c.337A>T p.I113F Missense 4/4 - 1
11-64084382-CT-GC c.328_329delinsGC p.S110A Missense 4/4 - 1
11-64084382-CT-GG c.328_329delinsCC p.S110P Missense 4/4 - 1
11-64084384-G-A c.327C>T p.I109= Synonymous 4/4 - 2
11-64084384-G-T c.327C>A p.I109= Synonymous 4/4 - 2
11-64084391-AA-GC c.319_320delinsGC p.F107A Missense 4/4 - 1
11-64084394-A-C c.317T>G p.M106R Missense 4/4 - 6
11-64084403-G-A c.308C>T p.S103F Missense 4/4 - 2
11-64084405-T-A c.306A>T p.E102D Missense 4/4 - 1
11-64084405-T-G c.306A>C p.E102D Missense 4/4 - 1
11-64084421-G-C c.290C>G p.T97S Missense 4/4 - 1
11-64084436-T-G c.275A>C p.E92A Missense 4/4 - 1
11-64084438-C-A c.273G>T p.V91= Synonymous 4/4 - 1
11-64084438-C-G c.273G>C p.V91= Synonymous 4/4 - 1
11-64084438-C-T c.273G>A p.V91= Synonymous 4/4 - 1
11-64084439-A-C c.272T>G p.V91G Missense 4/4 - 1
11-64084559-G-C c.241C>G p.L81V Missense 3/4 - 1
11-64084564-T-A c.236A>T p.E79V Missense 3/4 - 1
11-64084564-T-C c.236A>G p.E79G Missense 3/4 - 3
11-64084568-C-G c.232G>C p.E78Q Missense 3/4 - 1
11-64084568-C-T c.232G>A p.E78K Missense 3/4 - 1
11-64084573-T-A c.227A>T p.E76V Missense 3/4 - 2
11-64084574-C-A c.226G>T p.E76* Nonsense 3/4 - 2
11-64084571-TCTC-T c.226_228del p.E76del InFrameDeletion 3/4 - 2
11-64084577-C-T c.223G>A p.E75K Missense 3/4 - 2
11-64084579-T-C c.221A>G p.Y74C Missense 3/4 - 1
11-64084586-C-T c.214G>A p.E72K Missense 3/4 - 8
11-64084596-T-C c.204A>G p.K68= Synonymous 3/4 - 1
11-64084599-C-A c.201G>T p.P67= Synonymous 3/4 - 1
11-64084599-C-G c.201G>C p.P67= Synonymous 3/4 - 2
11-64084599-C-T c.201G>A p.P67= Synonymous 3/4 - 2
11-64084612-A-G c.188T>C p.L63P Missense 3/4 - 1
11-64084615-C-A c.185G>T p.R62L Missense 3/4 - 1
11-64084683-T-C c.180+53A>G - IntronicSNV - 2/3 1
11-64084694-C-A c.180+42G>T - IntronicSNV - 2/3 1
11-64084703-C-G c.180+33G>C - IntronicSNV - 2/3 1
11-64084733-C-T c.180+3G>A - IntronicSNV - 2/3 1
11-64084735-C-T c.180+1G>A - IntronicSNV - 2/3 1
11-64084750-C-T c.166G>A p.E56K Missense 2/4 - 1
11-64084753-G-T c.163C>A p.L55M Missense 2/4 - 1
11-64084757-CGC-GAT c.157_159delinsATC p.A53I Missense 2/4 - 1
11-64084758-GC-AG c.157_158delinsCT p.A53L Missense 2/4 - 1
11-64084760-C-G c.156G>C p.S52= Synonymous 2/4 - 1
11-64084763-C-A c.153G>T p.W51C Missense 2/4 - 1
11-64084763-C-G c.153G>C p.W51C Missense 2/4 - 1
11-64084767-T-G c.149A>C p.E50A Missense 2/4 - 1
11-64084773-TT-GC c.142_143delinsGC p.K48A Missense 2/4 - 1
11-64084782-AT-GC c.133_134delinsGC p.M45A Missense 2/4 - 1
11-64084783-T-A c.133A>T p.M45L Missense 2/4 - 1
11-64084783-T-G c.133A>C p.M45L Missense 2/4 - 1
11-64084785-C-T c.131G>A p.R44H Missense 2/4 - 1
11-64084788-CG-C c.128del p.A43Gfs*3 Frameshift 2/4 - 1
11-64084788-G-A c.128C>T p.A43V Missense 2/4 - 1
11-64084789-C-T c.127G>A p.A43T Missense 2/4 - 2
11-64084790-C-A c.126G>T p.V42= Synonymous 2/4 - 1
11-64084790-CAC-GAT c.124_126delinsATC p.V42I Missense 2/4 - 1
11-64084790-C-G c.126G>C p.V42= Synonymous 2/4 - 1
11-64084790-C-T c.126G>A p.V42= Synonymous 2/4 - 1
11-64084793-G-A c.123C>T p.F41= Synonymous 2/4 - 1
11-64084793-G-C c.123C>G p.F41L Missense 2/4 - 1
11-64084793-G-T c.123C>A p.F41L Missense 2/4 - 1
11-64084795-A-G c.121T>C p.F41L Missense 2/4 - 1
11-64084799-G-A c.117C>T p.P39= Synonymous 2/4 - 1
11-64084806-A-G c.110T>C p.F37S Missense 2/4 - 1
11-64084808-T-A c.108A>T p.E36D Missense 2/4 - 1
11-64084808-T-G c.108A>C p.E36D Missense 2/4 - 1
11-64084811-C-T c.105G>A p.V35= Synonymous 2/4 - 1
11-64084817-G-A c.99C>T p.C33= Synonymous 2/4 - 1
11-64084820-G-C c.96C>G p.I32M Missense 2/4 - 1
11-64084821-A-G c.95T>C p.I32T Missense 2/4 - 1
11-64084825-G-A c.91C>T p.R31C Missense 2/4 - 1
11-64084831-C-T c.85G>A p.E29K Missense 2/4 - 1
11-64084891-C-G c.78+30G>C - IntronicSNV - 1/3 1
11-64084926-G-T c.73C>A p.L25I Missense 1/4 - 1
11-64084928-C-T c.71G>A p.R24H Missense 1/4 - 1
11-64084932-G-C c.67C>G p.L23V Missense 1/4 - 1
11-64084931-AG-A c.67del p.L23Cfs*23 Frameshift 1/4 - 1
11-64084942-ACG-CCA c.55_57delinsTGG p.R19W Missense 1/4 - 1
11-64084944-G-A c.55C>T p.R19C Missense 1/4 - 2
11-64084947-ACCCCA-CCC c.47_52delinsGGG p.V16_S18delinsGA MultiAAMissense 1/4 - 1
11-64084949-C-T c.50G>A p.G17E Missense 1/4 - 3
11-64084952-A-AC c.46dup p.V16Gfs*33 Frameshift 1/4 - 2
11-64084952-AC-A c.46del p.V16Wfs*30 Frameshift 1/4 - 4
11-64084959-G-A c.40C>T p.R14W Missense 1/4 - 1
11-64084968-A-C c.31T>G p.S11A Missense 1/4 - 1
11-64084970-CT-AA c.28_29delinsTT p.S10F Missense 1/4 - 1
11-64084970-CT-GC c.28_29delinsGC p.S10A Missense 1/4 - 1
11-64084970-CT-TC c.28_29delinsGA p.S10D Missense 1/4 - 1
11-64084974-G-T c.25C>A p.L9M Missense 1/4 - 1
11-64084976-A-C c.23T>G p.L8R Missense 1/4 - 1
11-64084981-GTG-TTA c.16_18delinsTAA p.H6* Nonsense 1/4 - 1
11-64084997-CA-C c.2del p.M1? CdsStartDeletion 1/4 - 1
11-64084998-T-A c.1A>T p.M1? Missense 1/4 - 1
11-64084998-T-G c.1A>C p.M1? Missense 1/4 - 1