Annotation Detail
Information
- Associated Genes
- ANG APEX1 BCL2L2 CEBPE DAD1 HNRNPC MMP14 MYH6 MYH7 PNP OXA1L PSMB5 RNASE1 RNASE2 RNASE3 RNASE4 RNASE6 SALL2 TRA TRAV6 TRD TEP1 TRL-AAG2-3 TRP-AGG2-5 TRP-AGG2-6 TRT-TGT3-1 PABPN1 SLC7A7 TOX4 PARP2 EFS PRMT5 EDDM3A SUPT16H ACIN1 SLC7A8 LRP10 OR10G3 OR10G2 OR4E2 OR4E1 TRDV3 TRDV2 TRDV1 TRDJ4 TRDJ3 TRDJ2 TRDJ1 TRDD3 TRDD2 TRDD1 TRDC TRAV41 TRAV40 TRAV39 TRAV38-2DV8 TRAV38-1 TRAV36DV7 TRAV35 TRAV34 TRAV30 TRAV29DV5 TRAV27 TRAV26-2 TRAV26-1 TRAV25 TRAV24 TRAV23DV6 TRAV22 TRAV21 TRAV20 TRAV19 TRAV18 TRAV17 TRAV16 TRAV14DV4 TRAV13-2 TRAV13-1 TRAV12-3 TRAV12-2 TRAV12-1 TRAV10 TRAV9-2 TRAV9-1 TRAV8-7 TRAV8-6 TRAV8-4 TRAV8-3 TRAV8-2 TRAV8-1 TRAV7 TRAV5 TRAV4 TRAV3 TRAV2 TRAV1-2 TRAV1-1 TRAJ61 TRAJ59 TRAJ58 TRAJ57 TRAJ56 TRAJ54 TRAJ53 TRAJ52 TRAJ50 TRAJ49 TRAJ48 TRAJ47 TRAJ46 TRAJ45 TRAJ44 TRAJ43 TRAJ42 TRAJ41 TRAJ40 TRAJ39 TRAJ38 TRAJ37 TRAJ36 TRAJ35 TRAJ34 TRAJ33 TRAJ32 TRAJ31 TRAJ30 TRAJ29 TRAJ28 TRAJ27 TRAJ26 TRAJ25 TRAJ24 TRAJ23 TRAJ22 TRAJ21 TRAJ20 TRAJ19 TRAJ18 TRAJ17 TRAJ16 TRAJ15 TRAJ14 TRAJ13 TRAJ12 TRAJ11 TRAJ10 TRAJ9 TRAJ8 TRAJ7 TRAJ6 TRAJ5 TRAJ4 TRAJ3 TRAJ2 TRAJ1 TRAC SLC39A2 ZNF219 SLC22A17 HAUS4 C14orf119 RBM23 OSGEP ARHGEF40 METTL3 RPGRIP1 NDRG2 HOMEZ CHD8 CCNB1IP1 C14orf93 ABHD4 EDDM3B CDH24 METTL17 IL25 OR6J1 RNASE7 RAB2B AJUBA RPPH1 PPP1R3E PIP4P1 TTC5 CMTM5 RNASE11 TPPP2 RNASE8 MRPL52 PSMB11 OR11H6 KLHL33 REM2 RNASE11-AS1 LINC00641 SNORD8 RNASE10 OR6S1 OR11G2 OR11H7 OR11H4 RNASE9 OR5AU1 MIR208A RNASE13 RNASE12 TMEM253 SNORD9 TRY-GTA7-1 TRY-GTA5-4 SNORD126 MIR208B CIROP TRY-GTA5-5 TRP-TGG3-2 TRL-TAG2-1 TRR-ACG1-3 TRT-TGT5-1 TRP-TGG1-1 TRY-GTA4-1 TRT-TGT4-1 TRY-GTA5-3 PRMT5-AS1 RNF212B BCL2L2-PABPN1 MIR4707 PRMT5-DT LOC101929718 MIR6717 MHRT LINC02332 TRD-AS1 LOC105370705 LOC107372315 SNORA79B LOC110121424 LOC110121433 LOC112214170 LOC112214171 LOC112214174 LOC112214175 LOC112214176 LOC114827851 EGILA LOC121838585 LOC121838586 LOC121838587 LOC124958010 LOC124958011 LOC124958012 LOC124958013 LOC124958014 LOC124958015 LOC124958016 LOC126861878 LOC126861879 LOC126861880 LOC126861881 LOC126861882 LOC126861883 LOC126861884 LOC126861885 LOC126861886 LOC126861887 LOC126861888 LOC126861889 LOC126861890 LOC126861891 LOC126861892 LOC126861893 LOC126861894 LOC126861895 LOC126861896 LOC126861897 LOC126861898 LOC129390612 LOC129390613 LOC129390614 LOC129390615 LOC130055244 LOC130055245 LOC130055246 LOC130055247 LOC130055248 LOC130055249 LOC130055250 LOC130055251 LOC130055252 LOC130055253 LOC130055254 LOC130055255 LOC130055256 LOC130055257 LOC130055258 LOC130055259 LOC130055260 LOC130055261 LOC130055262 LOC130055263 LOC130055264 LOC130055265 LOC130055266 LOC130055267 LOC130055268 LOC130055269 LOC130055270 LOC130055271 LOC130055272 LOC130055273 LOC130055274 LOC130055275 LOC130055276 LOC130055277 LOC130055278 LOC130055279 LOC130055280 LOC130055281 LOC130055282 LOC130055283 LOC130055284 LOC130055285 LOC130055286 LOC130055287 LOC130055288 LOC130055289 LOC130055290 LOC130055291 LOC130055292 LOC130055293 LOC130055294 LOC130055295 LOC130055296 LOC130055297 LOC130055298 LOC130055299 LOC130055300 LOC130055301 LOC130055302 LOC130055303 LOC130055304 LOC130055305 LOC130055306 LOC130055307 LOC130055308 LOC130055309 LOC130055310 LOC130055311 LOC130055312 LOC130055313 LOC130055314 LOC130055315 LOC130055316 LOC130055317 LOC130055318 LOC130055319 LOC130055320 LOC130055321 LOC130055322 LOC130055323 LOC130055324 LOC130055325 LOC130055326 LOC130055327 LOC130055328 LOC130055329 LOC130055330 LOC130055331 LOC130055332 LOC130055333 LOC130055334 LOC130055335 LOC130055336 LOC130055337 LOC130055338 LOC130055339 LOC130055340 LOC130055341 LOC130055342 LOC130055343 LOC130055344 LOC130055345 LOC130055346 LOC130055347 LOC130055348 LOC130055349 LOC130055350 LOC130055351 LOC130055352 LOC130055353 LOC130055354 LOC130055355 LOC130055356 LOC130055357 LOC130055358 LOC130055359 LOC130055360 LOC130055361 LOC130055362 LOC130055363 LOC130055364 LOC132090211
- Associated Variants
-
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3
GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 14q11.2(chr14:20151149-23442195)x3 AND See cases
- ClinVar Allele ID
- 71841
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-08-12
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000050914
- Observed Origin Sample
- not provided
Drugs