Annotation Detail

Information
Associated Genes
CDH4 CHRNA4 COL9A3 EEF1A2 NPBWR2 KCNQ2 LAMA5 MYT1 NTSR1 OPRL1 PSMA7 PTK6 RPS21 SRMS TAF4 TCEA2 TPD52L2 TNFRSF6B OSBPL2 ARFRP1 RGS19 TCFL5 ADRM1 OGFR DIDO1 HRH3 PRPF6 SS18L1 MTG2 GMEB2 SLCO4A1 STMN3 RTEL1 SOX18 YTHDF1 LIME1 UCKL1 GID8 PCMTD2 MRGBP ARFGAP1 SLC2A4RG ZNF512B COL20A1 SLC17A9 LINC01749 FNDC11 PPDPF BIRC7 DNAJC5 CABLES2 ZGPAT HELZ2 BHLHE23 NKAIN4 MIR1-1HG GATA5 ZBTB46 SAMD10 ABHD16B RBBP8NL LSM14B LKAAEAR1 CRMA C20orf204 MIR1-1 MIR124-3 MIR133A2 MIR647 HAR1A HAR1B UCKL1-AS1 MIR941-1 MIR941-4 MIR941-2 MIR941-3 SLCO4A1-AS1 LOC100128310 C20orf181 LOC100130587 LINC00029 LINC01056 FLJ16779 MIR1914 MIR1257 MIR3195 MIR4326 MIR3196 MHENCR RTEL1-TNFRSF6B MIR4758 LINC00659 OGFR-AS1 LAMA5-AS1 SLCO4A1-AS2 ZBTB46-AS1 MIR6813 MIR941-5 LOC105369209 LOC105372703 LOC105372710 LINC02970 KCNQ2-AS1 LOC108281116 SNORA117 LOC110594337 LOC112268269 LOC112694725 LOC112694726 LOC112694727 LOC112694728 LOC114004357 LOC114803474 LOC120285836 LOC121627914 LOC121627915 LOC121627916 LOC121853017 LOC121853018 LOC121853019 LOC121853020 ZBTB46-AS2 LOC125387313 LOC125387316 LOC125387317 LOC125387318 LOC125387319 LOC125387320 LOC126863077 LOC126863078 LOC126863079 LOC126863080 LOC126863081 LOC126863082 LOC126863083 LOC126863084 LOC126863085 LOC126863086 LOC126863087 LOC126863088 LOC126863089 LOC126863090 LOC126863091 LOC126863092 RPS21-DT LOC128772425 LOC128772426 LOC129391206 LOC129391207 LOC129391208 LOC129391209 LOC129391210 LOC129391211 LOC129391212 LOC129391213 LOC130066288 LOC130066289 LOC130066290 LOC130066291 LOC130066292 LOC130066293 LOC130066294 LOC130066295 LOC130066296 LOC130066297 LOC130066298 LOC130066299 LOC130066300 LOC130066301 LOC130066302 LOC130066303 LOC130066304 LOC130066305 LOC130066306 LOC130066307 LOC130066308 LOC130066309 LOC130066310 LOC130066311 LOC130066312 LOC130066313 LOC130066314 LOC130066315 LOC130066316 LOC130066317 LOC130066318 LOC130066319 LOC130066320 LOC130066321 LOC130066322 LOC130066323 LOC130066324 LOC130066325 LOC130066326 LOC130066327 LOC130066328 LOC130066329 LOC130066330 LOC130066331 LOC130066332 LOC130066333 LOC130066334 LOC130066335 LOC130066336 LOC130066337 LOC130066338 LOC130066339 LOC130066340 LOC130066341 LOC130066342 LOC130066343 LOC130066344 LOC130066345 LOC130066346 LOC130066347 LOC130066348 LOC130066349 LOC130066350 LOC130066351 LOC130066352 LOC130066353 LOC130066354 LOC130066355 LOC130066356 LOC130066357 LOC130066358 LOC130066359 LOC130066360 LOC130066361 LOC130066362 LOC130066363 LOC130066364 LOC130066365 LOC130066366 LOC130066367 LOC130066368 LOC130066369 LOC130066370 LOC130066371 LOC130066372 LOC130066373 LOC130066374 LOC130066375 LOC130066376 LOC130066377 LOC130066378 LOC130066379 LOC130066380 LOC130066381 LOC130066382 LOC130066383 LOC130066384 LOC130066385 LOC130066386 LOC130066387 LOC130066388 LOC130066389 LOC130066390 LOC130066391 LOC130066392 LOC130066393 LOC130066394 LOC130066395 LOC130066396 LOC130066397 LOC130066398 LOC130066399 LOC130066400 LOC130066401 LOC130066402 LOC130066403 LOC130066404 LOC130066405 LOC130066406 LOC130066407 LOC130066408 LOC130066409 LOC130066410 LOC130066411 LOC130066412 LOC130066413 LOC130066414 LOC130066415 LOC130066416 LOC130066417 LOC130066418 LOC130066419 LOC130066420 LOC130066421 LOC130066422 LOC130066423 LOC130066424 LOC130066425 LOC130066426 LOC130066427 LOC130066428 LOC132090594 LOC132090595 LOC132090596 LOC132090597 LOC132090598 LOC132090599 LOC132090600 LOC132090601 LOC132090602 LOC132090603 LOC132090604 LOC132090605 LOC132090606 LOC132090911 LOC132090912 LOC132090913 LOC132090914 LOC132090915
Associated Variants
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3
Source Database
ClinVar
Description
GRCh38/hg38 20q13.33(chr20:61326549-64277326)x3 AND See cases
ClinVar Allele ID
159963
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2012-09-21
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000139100
Observed Origin Sample
not provided
Drugs