Annotation Detail

Information
Associated Genes
CAMK4 CAST CCNH CETN3 CHD1 COX7C EFNA5 FER GLRX LNPEP MAN2A1 MEF2C PAM PCSK1 RASA1 NR2F1 ST8SIA4 SKIC3 PJA2 POLR3G RHOBTB3 ELL2 PPIP5K2 ERAP1 GIN1 LINC01949 RIOK2 ARRDC3 ERAP2 FBXL17 MCTP1 NUDT12 SPATA9 ARB2A ADGRV1 SLF1 TSLP MACIR SLC25A46 LYSMD3 SLCO6A1 POU5F2 WDR36 MBLAC2 TMEM161B ARSK FAM81B LIX1 LINC01554 KIAA0825 GPR150 LOC285638 RGMB LINC00491 RFESD FAM174A SLCO4C1 MIR9-2 NR2F1-AS1 RGMB-AS1 TMEM232 LOC644285 LOC645261 MIR9-2HG MIR583 LOC731157 ARRDC3-AS1 LOC100289230 LINC01848 MIR548F3 MIR548P MIR2277 MIR4280 MIR3660 LINC02059 TMEM161B-DT LUCAT1 LINC01023 LINC00492 LIX1-AS1 LOC101929380 MEF2C-AS1 LINC01339 LOC101929710 LINC02115 LINC01950 LINC02060 LINC01340 LOC102724637 LOC102724720 CHD1-DT LINC02113 LINC02144 LOC105379082 LINC01846 LOC105379109 CRE1 SNORD138 MEF2C-AS2 LINC02234 LOC110120605 LOC110120637 LOC110120638 LOC110120640 LOC110120641 LOC110120688 LOC110120699 LOC110120744 LOC110120771 LOC110120789 LOC110120808 LOC110120815 LOC110120966 LOC110120971 LOC110120974 LOC110120977 LOC110120982 LOC110120991 LOC110121009 LOC110121012 LOC110121013 LOC110121035 LOC110121070 LOC110121147 LOC110121176 LOC110121194 LINC02488 LOC112997552 LOC113002595 LOC113002596 LOC114004395 MIR4280HG LOC121079950 LOC121079951 LOC121079952 LOC121079953 LOC121079954 LOC121079955 FAM174A-DT LOC121725209 LOC121725210 LOC121725211 LOC121725212 LOC121725213 LOC123497930 LOC123497931 LOC123497932 LOC123497933 LOC123497934 LOC123497935 LOC123497936 LOC123497937 LOC123497938 LOC123497939 LOC123497940 LOC123497941 LOC123497942 LOC123497943 LOC123497944 LOC123497945 LOC123497946 LOC123497947 LOC123497948 LOC123497949 LOC123497950 LOC123497951 MAN2A1-DT LOC126807444 LOC126807445 LOC126807446 LOC126807447 LOC126807448 LOC126807449 LOC126807450 LOC126807451 LOC126807452 LOC126807453 LOC126807454 LOC126807455 LOC126807456 LOC126807457 LOC126807458 LOC126807459 LOC126807460 LOC126807461 LOC126807462 LOC126807463 LOC126807464 LOC126807465 LOC126807466 LOC126807467 LOC126807468 LOC126807469 LOC126807470 LOC126807471 LOC126807472 LOC126807473 LOC128772265 LOC128772266 LOC128772267 LOC128772268 LOC128772269 LOC128772270 LOC128772271 LOC128772272 LOC128772273 LOC129389312 LOC129389313 LOC129389314 LOC129389315 LOC129389316 LOC129389317 LOC129389318 LOC129389319 LOC129389320 LOC129389321 LOC129389322 LOC129389323 LOC129389324 LOC129389325 LOC129389326 LOC129389327 LOC129389328 LOC129389329 LOC129389330 LOC129389331 LOC129389332 LOC129389333 LOC129389334 LOC129389335 LOC129389336 LOC129389337 LOC129389338 LOC129389339 LOC129389340 LOC129389341 LOC129389342 LOC129389343 LOC129994164 LOC129994165 LOC129994166 LOC129994167 LOC129994168 LOC129994169 LOC129994170 LOC129994171 LOC129994172 LOC129994173 LOC129994174 LOC129994175 LOC129994176 LOC129994177 LOC129994178 LOC129994179 LOC129994180 LOC129994181 LOC129994182 LOC129994183 LOC129994184 LOC129994185 LOC129994186 LOC129994187 LOC129994188 LOC129994189 LOC129994190 LOC129994191 LOC129994192 LOC129994193 LOC129994194 LOC129994195 LOC129994196 LOC129994197 LOC129994198 LOC129994199 LOC129994200 LOC129994201 LOC129994202 LOC129994203 LOC129994204 LOC129994205 LOC129994206 LOC129994207 LOC129994208 LOC129994209 LOC129994210 LOC129994211 LOC129994212 LOC129994213 LOC129994214 LOC129994215 LOC129994216 LOC129994217 LOC129994218 LOC129994219 LOC129994220 LOC129994221 LOC129994222 LOC129994223 LOC129994224 LOC129994225 LOC129994226 LOC129994227 LOC129994228 LOC129994229 LOC129994230 LOC129994231 LOC129994232 LOC129994233 LOC129994234 LOC129994235 LOC129994236 LOC129994237 LOC129994238 LOC129994239 LOC129994240 LOC129994241 LOC129994242 LOC129994243 LOC129994244 LOC129994245 LOC129994246 LOC129994247 LOC129994248 LOC129994249 LOC129994250 LOC129994251 LOC129994252 LOC129994253 LOC129994254 LOC129994255 LOC129994256 LOC129994257 LOC129994258 LOC129994259 LOC129994260 LOC129994261 LOC129994262 LOC129994263 LOC129994264 LOC129994265 LOC129994266 LOC129994267 LOC129994268 LOC129994269 LOC129994270 LOC129994271 LOC129994272 LOC129994273 LOC129994274 LOC129994275 LOC129994276 LOC129994277 LOC129994278 LOC129994279 LOC129994280 LOC129994281 LOC129994282 LOC129994283 LOC129994284 LOC129994285 LOC129994286 LOC129994287 LOC129994288 LOC129994289 LOC129994290 LOC129994291 LOC129994292 LOC129994293 LOC129994294 LOC129994295 LOC129994296 LOC129994297 LOC129994298 LOC129994299 LOC129994300 LOC129994301 LOC129994302 LOC129994303 LOC129994304 LOC129994305 LOC129994306 LOC129994307 LOC129994308 LOC129994309 LOC129994310 LOC129994311 LOC129994312 LOC129994313 LOC129994314 LOC129994315 LOC129994316 LOC129994317 LOC129994318 LOC129994319 LOC129994320 LOC129994321 LOC129994322 LOC129994323 LOC129994324 LOC129994325 LOC129994326 LOC129994327 LOC129994328 LOC129994329 LOC129994330 LOC129994331 LOC129994332 LOC129994333 LOC129994334 LOC129994335 LOC129994336 LOC129994337 LOC129994338 LOC129994339 LOC129994340 LOC129994341 LOC129994342 LOC129994343 LOC129994344 LOC129994345 LOC129994346 LOC129994347 LOC129994348 LOC129994349 LOC129994350 LOC129994351 LOC129994352 LOC129994353 LOC129994354 LOC129994355 LOC129994356 LOC129994357 LOC129994358 LOC129994359 LOC132089159 LOC132089160 LOC132089304
Associated Variants
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1
Source Database
ClinVar
Description
GRCh38/hg38 5q14.3-22.1(chr5:84603580-111435081)x1 AND See cases
ClinVar Allele ID
160611
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-06-18
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000139656
Observed Origin Sample
not provided
Drugs