Annotation Detail
Information
- Associated Genes
- AARS1 AP1G1 AGRP ZFHX3 CA7 CALB2 CBFB CDH1 CDH3 CDH5 CDH8 CDH11 CDH16 CTRL DHODH NQO1 DYNC1LI2 E2F4 GLG1 GOT2 HAS3 HP HPR HSD11B2 HSF4 LCAT NFATC3 PSKH1 PSMB10 PSMD7 RRAD ST3GAL2 SLC9A5 SLC12A4 SNTB2 TAT TERF2 TK2 TRG-GCC3-1 ZNF19 ZNF23 TRADD CES2 NAE1 NOL3 SLC7A6 ATP6V0D1 DHX38 IST1 CHST4 NUTF2 CTCF NFAT5 WWP2 DDX19B CNOT1 PHLPP2 SF3B3 CES3 EDC4 PLA2G15 COG4 PLEKHG4 FBXL9P VPS4A NOB1 TMEM208 FHOD1 ZDHHC1 PARD6A CKLF NIP7 CIAO2B TPPP3 PRMT7 HYDIN DUS2 CHTF8 TXNL4B PDPR RFWD3 SLC38A7 LRRC36 DDX19A FBXL8 SMPD3 ZNF821 VAC14 CMTR2 DDX28 TSNAXIP1 THAP11 PDP2 RANBP10 PDF DPEP2 DPEP3 NDRG4 ACD RIPOR1 TANGO6 ELMO3 SETD6 ESRP2 CENPT PHAF1 CYB5B GFOD2 PMFBP1 ENKD1 SLC7A6OS COG8 B3GNT9 UTP4 MARVELD3 MTSS2 CMTM1 EXOSC6 NRN1L CMTM3 ZFP90 CARMIL2 KCTD19 CMTM4 CMTM2 BEAN1 IL34 TMED6 FCSK MLKL TERB1 CES4A EXOC3L1 LINC00922 HCCAT5 CLEC18C ATXN1L PKD1L3 CLEC18A C16orf86 LOC400541 MIR140 NPIPB15 MIR328 CLEC18B MATCAP1 SNORA46 SNORA50A SNORD71 SNORD111 SNORD111B VAC14-AS1 DPEP2NB TAT-AS1 TRG-GCC2-4 TRK-TTT1-1 TRM-CAT2-1 TRG-GCC2-5 TRG-GCC5-1 MIR1538 SNORA70D MIR1972-2 LINC00920 LOC100505942 DDX19A-DT LOHAN2 CKLF-CMTM1 LINC02141 LINC02126 BEAN1-AS1 ATP6V0D1-DT LINC01572 ZFHX3-AS1 PSMD7-DT MIR6773 TLE7 LINC02137 LOC105371296 LOC105371328 LINC02136 LOC105371335 LOC105376772 DYNC1LI2-DT CTCF-DT LOC108251797 FRA16B SNORD13H LOC110120571 LOC110120572 LOC110120573 LOC110120824 LOC110121356 LOC110121410 LOC110121436 LOC110121443 LOC111413029 LOC112469013 LOC112469014 LOC112469015 LOC112469016 LOC112486201 LOC112486202 LOC112486203 LOC112486204 LOC112486205 LOC112486206 DERPC NQO1-DT CDH8-AS1 LOC121587548 LOC121587549 LOC121587550 LOC121587551 LOC121587552 LOC121587553 LOC121587554 LOC121587555 LOC121587556 LOC121587557 LOC121587558 LOC121587559 LOC121587560 LOC121587561 LOC121847990 CDH3-AS1 LOC125177327 LOC125177328 LOC125177330 LOC125177332 LOC125177333 LOC125177334 LOC125177336 LOC125177337 LOC125177338 LOC125177339 LOC125177340 LOC125177341 LOC125177342 LOC125177343 LOC125177344 LOC125177345 LOC125177346 LOC125177347 LOC125177348 LOC125177349 LOC125177350 LOC126862363 LOC126862364 LOC126862365 LOC126862366 LOC126862367 LOC126862368 LOC126862369 LOC126862370 LOC126862371 LOC126862372 LOC126862373 LOC126862374 LOC126862375 LOC126862376 LOC126862377 LOC126862378 LOC126862379 LOC126862380 LOC126862381 LOC126862382 LOC126862383 LOC126862384 LOC126862385 LOC126862386 LOC126862387 LOC126862388 LOC126862389 LOC126862390 LOC126862391 LOC126862392 LOC126862393 LOC126862394 LOC126862395 LOC126862396 LOC126862397 LOC126862398 LOC128772395 LOC128772396 LOC128772397 LOC128772398 LOC128772399 LOC128772400 LOC128772401 LOC128772402 LOC128772403 LOC128772404 LOC128772405 LOC128772406 LOC128772407 LOC128772408 LOC128772409 LOC128772410 LOC128772411 LOC128772412 LOC128772413 LOC128772414 LOC128822932 LOC128822933 LOC128849170 LOC129390797 LOC129390798 LOC129390799 LOC129390800 LOC129390801 LOC129390802 LOC129390803 LOC129390804 LOC129390805 LOC129390806 LOC129390807 LOC129390808 LOC129390809 LOC129390810 PCHILR LOC130059144 LOC130059145 LOC130059146 LOC130059147 LOC130059148 LOC130059149 LOC130059150 LOC130059151 LOC130059152 LOC130059153 LOC130059154 LOC130059155 LOC130059156 LOC130059157 LOC130059158 LOC130059159 LOC130059160 LOC130059161 LOC130059162 LOC130059163 LOC130059164 LOC130059165 LOC130059166 LOC130059167 LOC130059168 LOC130059169 LOC130059170 LOC130059171 LOC130059172 LOC130059173 LOC130059174 LOC130059175 LOC130059176 LOC130059177 LOC130059178 LOC130059179 LOC130059180 LOC130059181 LOC130059182 LOC130059183 LOC130059184 LOC130059185 LOC130059186 LOC130059187 LOC130059188 LOC130059189 LOC130059190 LOC130059191 LOC130059192 LOC130059193 LOC130059194 LOC130059195 LOC130059196 LOC130059197 LOC130059198 LOC130059199 LOC130059200 LOC130059201 LOC130059202 LOC130059203 LOC130059204 LOC130059205 LOC130059206 LOC130059207 LOC130059208 LOC130059209 LOC130059210 LOC130059211 LOC130059212 LOC130059213 LOC130059214 LOC130059215 LOC130059216 LOC130059217 LOC130059218 LOC130059219 LOC130059220 LOC130059221 LOC130059222 LOC130059223 LOC130059224 LOC130059225 LOC130059226 LOC130059227 LOC130059228 LOC130059229 LOC130059230 LOC130059231 LOC130059232 LOC130059233 LOC130059234 LOC130059235 LOC130059236 LOC130059237 LOC130059238 LOC130059239 LOC130059240 LOC130059241 LOC130059242 LOC130059243 LOC130059244 LOC130059245 LOC130059246 LOC130059247 LOC130059248 LOC130059249 LOC130059250 LOC130059251 LOC130059252 LOC130059253 LOC130059254 LOC130059255 LOC130059256 LOC130059257 LOC130059258 LOC130059259 LOC130059260 LOC130059261 LOC130059262 LOC130059263 LOC130059264 LOC130059265 LOC130059266 LOC130059267 LOC130059268 LOC130059269 LOC130059270 LOC130059271 LOC130059272 LOC130059273 LOC130059274 LOC130059275 LOC130059276 LOC130059277 LOC130059278 LOC130059279 LOC130059280 LOC130059281 LOC130059282 LOC130059283 LOC130059284 LOC130059285 LOC130059286 LOC130059287 LOC130059288 LOC130059289 LOC130059290 LOC130059291 LOC130059292 LOC130059293 LOC130059294 LOC130059295 LOC130059296 LOC130059297 LOC130059298 LOC130059299 LOC130059300 LOC130059301 LOC130059302 LOC130059303 LOC130059304 LOC130059305 LOC130059306 LOC130059307 LOC130059308 LOC130059309 LOC130059310 LOC130059311 LOC130059312 LOC130059313 LOC130059314 LOC130059315 LOC130059316 LOC130059317 LOC130059318 LOC130059319 LOC130059320 LOC130059321 LOC130059322 LOC130059323 LOC130059324 LOC130059325 LOC130059326 LOC130059327 LOC130059328 LOC130059329 LOC130059330 LOC130059331 LOC130059332 LOC130059333 LOC130059334 LOC130059335 LOC130059336 LOC130059337 LOC130059338 LOC130059339 LOC130059340 LOC130059341 LOC130059342 LOC130059343 LOC130059344 LOC130059345 LOC130059346 LOC130059347 LOC130059348 LOC130059349 LOC130059350 LOC130059351 LOC130059352 LOC130059353 LOC130059354 LOC130059355 LOC130059356 LOC130059357 LOC130059358 LOC130059359 LOC130059360 LOC130059361 LOC130059362 LOC130059363 LOC130059364 LOC130059365 LOC130059366 LOC130059367 LOC130059368 LOC130059369 LOC130059370 LOC130059371 LOC130059372 LOC130059373 LOC130059374 LOC130059375 LOC130059376 LOC130059377 LOC130059378 LOC130059379 LOC130059380 LOC130059381 LOC130059382 LOC130059383 LOC130059384 LOC130059385 LOC130059386 LOC130059387 LOC130059388 LOC130059389 LOC130059390 LOC132090390 LOC132090391 LOC132090392 LOC132090393 LOC132090394 LOC132090395 LOC132090396 LOC132090397 LOC132090398
- Associated Variants
-
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3
GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3 AND See cases
- ClinVar Allele ID
- 73227
- 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/RCV000052408
- Observed Origin Sample
- not provided
Drugs