GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1 AND See cases

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 12, 2011
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000053755.5

Allele description [Variation Report for GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1]

GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1

Genes:
  • LOC129929284:ATAC-STARR-seq lymphoblastoid active region 100 [Gene]
  • LOC129929285:ATAC-STARR-seq lymphoblastoid active region 101 [Gene]
  • LOC129929289:ATAC-STARR-seq lymphoblastoid active region 102 [Gene]
  • LOC129929292:ATAC-STARR-seq lymphoblastoid active region 103 [Gene]
  • LOC129929293:ATAC-STARR-seq lymphoblastoid active region 105 [Gene]
  • LOC129929294:ATAC-STARR-seq lymphoblastoid active region 106 [Gene]
  • LOC129929295:ATAC-STARR-seq lymphoblastoid active region 107 [Gene]
  • LOC129929297:ATAC-STARR-seq lymphoblastoid active region 108 [Gene]
  • LOC129929298:ATAC-STARR-seq lymphoblastoid active region 109 [Gene]
  • LOC129929302:ATAC-STARR-seq lymphoblastoid active region 110 [Gene]
  • LOC129929306:ATAC-STARR-seq lymphoblastoid active region 111 [Gene]
  • LOC129929307:ATAC-STARR-seq lymphoblastoid active region 112 [Gene]
  • LOC129929308:ATAC-STARR-seq lymphoblastoid active region 113 [Gene]
  • LOC129929309:ATAC-STARR-seq lymphoblastoid active region 114 [Gene]
  • LOC129929312:ATAC-STARR-seq lymphoblastoid active region 115 [Gene]
  • LOC129929313:ATAC-STARR-seq lymphoblastoid active region 116 [Gene]
  • LOC129929314:ATAC-STARR-seq lymphoblastoid active region 117 [Gene]
  • LOC129929315:ATAC-STARR-seq lymphoblastoid active region 118 [Gene]
  • LOC129929316:ATAC-STARR-seq lymphoblastoid active region 119 [Gene]
  • LOC129929319:ATAC-STARR-seq lymphoblastoid active region 120 [Gene]
  • LOC129929328:ATAC-STARR-seq lymphoblastoid active region 125 [Gene]
  • LOC129929329:ATAC-STARR-seq lymphoblastoid active region 126 [Gene]
  • LOC129929330:ATAC-STARR-seq lymphoblastoid active region 127 [Gene]
  • LOC129929331:ATAC-STARR-seq lymphoblastoid active region 128 [Gene]
  • LOC129929333:ATAC-STARR-seq lymphoblastoid active region 129 [Gene]
  • LOC129929337:ATAC-STARR-seq lymphoblastoid active region 130 [Gene]
  • LOC129929338:ATAC-STARR-seq lymphoblastoid active region 131 [Gene]
  • LOC129929341:ATAC-STARR-seq lymphoblastoid active region 132 [Gene]
  • LOC129929342:ATAC-STARR-seq lymphoblastoid active region 133 [Gene]
  • LOC129929344:ATAC-STARR-seq lymphoblastoid active region 134 [Gene]
  • LOC129929345:ATAC-STARR-seq lymphoblastoid active region 135 [Gene]
  • LOC129929346:ATAC-STARR-seq lymphoblastoid active region 136 [Gene]
  • LOC129929350:ATAC-STARR-seq lymphoblastoid active region 137 [Gene]
  • LOC129929351:ATAC-STARR-seq lymphoblastoid active region 138 [Gene]
  • LOC129929352:ATAC-STARR-seq lymphoblastoid active region 139 [Gene]
  • LOC129929354:ATAC-STARR-seq lymphoblastoid active region 140 [Gene]
  • LOC129929358:ATAC-STARR-seq lymphoblastoid active region 141 [Gene]
  • LOC129929359:ATAC-STARR-seq lymphoblastoid active region 142 [Gene]
  • LOC129929360:ATAC-STARR-seq lymphoblastoid active region 143 [Gene]
  • LOC129929361:ATAC-STARR-seq lymphoblastoid active region 144 [Gene]
  • LOC129929364:ATAC-STARR-seq lymphoblastoid active region 145 [Gene]
  • LOC129929366:ATAC-STARR-seq lymphoblastoid active region 146 [Gene]
  • LOC129929367:ATAC-STARR-seq lymphoblastoid active region 147 [Gene]
  • LOC129929370:ATAC-STARR-seq lymphoblastoid active region 148 [Gene]
  • LOC129929371:ATAC-STARR-seq lymphoblastoid active region 149 [Gene]
  • LOC129929373:ATAC-STARR-seq lymphoblastoid active region 151 [Gene]
  • LOC129929374:ATAC-STARR-seq lymphoblastoid active region 152 [Gene]
  • LOC129929375:ATAC-STARR-seq lymphoblastoid active region 153 [Gene]
  • LOC129929383:ATAC-STARR-seq lymphoblastoid active region 155 [Gene]
  • LOC129929385:ATAC-STARR-seq lymphoblastoid active region 156 [Gene]
  • LOC129929386:ATAC-STARR-seq lymphoblastoid active region 157 [Gene]
  • LOC129929389:ATAC-STARR-seq lymphoblastoid active region 159 [Gene]
  • LOC129929390:ATAC-STARR-seq lymphoblastoid active region 160 [Gene]
  • LOC129929391:ATAC-STARR-seq lymphoblastoid active region 161 [Gene]
  • LOC129929394:ATAC-STARR-seq lymphoblastoid active region 162 [Gene]
  • LOC129929395:ATAC-STARR-seq lymphoblastoid active region 163 [Gene]
  • LOC129929397:ATAC-STARR-seq lymphoblastoid active region 165 [Gene]
  • LOC129929400:ATAC-STARR-seq lymphoblastoid active region 166 [Gene]
  • LOC129929401:ATAC-STARR-seq lymphoblastoid active region 167 [Gene]
  • LOC129929408:ATAC-STARR-seq lymphoblastoid active region 168 [Gene]
  • LOC129929409:ATAC-STARR-seq lymphoblastoid active region 169 [Gene]
  • LOC129929410:ATAC-STARR-seq lymphoblastoid active region 170 [Gene]
  • LOC129929413:ATAC-STARR-seq lymphoblastoid active region 171 [Gene]
  • LOC129929414:ATAC-STARR-seq lymphoblastoid active region 172 [Gene]
  • LOC129929417:ATAC-STARR-seq lymphoblastoid active region 178 [Gene]
  • LOC129929418:ATAC-STARR-seq lymphoblastoid active region 179 [Gene]
  • LOC129929419:ATAC-STARR-seq lymphoblastoid active region 180 [Gene]
  • LOC129929422:ATAC-STARR-seq lymphoblastoid active region 181 [Gene]
  • LOC129929425:ATAC-STARR-seq lymphoblastoid active region 183 [Gene]
  • LOC129929426:ATAC-STARR-seq lymphoblastoid active region 185 [Gene]
  • LOC129929427:ATAC-STARR-seq lymphoblastoid active region 186 [Gene]
  • LOC129929428:ATAC-STARR-seq lymphoblastoid active region 188 [Gene]
  • LOC129929429:ATAC-STARR-seq lymphoblastoid active region 189 [Gene]
  • LOC129929430:ATAC-STARR-seq lymphoblastoid active region 190 [Gene]
  • LOC129929431:ATAC-STARR-seq lymphoblastoid active region 191 [Gene]
  • LOC129929432:ATAC-STARR-seq lymphoblastoid active region 192 [Gene]
  • LOC129929433:ATAC-STARR-seq lymphoblastoid active region 193 [Gene]
  • LOC129929434:ATAC-STARR-seq lymphoblastoid active region 194 [Gene]
  • LOC129929435:ATAC-STARR-seq lymphoblastoid active region 195 [Gene]
  • LOC129929437:ATAC-STARR-seq lymphoblastoid active region 196 [Gene]
  • LOC129929438:ATAC-STARR-seq lymphoblastoid active region 197 [Gene]
  • LOC129929441:ATAC-STARR-seq lymphoblastoid active region 198 [Gene]
  • LOC129929442:ATAC-STARR-seq lymphoblastoid active region 199 [Gene]
  • LOC129929443:ATAC-STARR-seq lymphoblastoid active region 200 [Gene]
  • LOC129929444:ATAC-STARR-seq lymphoblastoid active region 201 [Gene]
  • LOC129929445:ATAC-STARR-seq lymphoblastoid active region 202 [Gene]
  • LOC129929446:ATAC-STARR-seq lymphoblastoid active region 203 [Gene]
  • LOC129929447:ATAC-STARR-seq lymphoblastoid active region 204 [Gene]
  • LOC129929448:ATAC-STARR-seq lymphoblastoid active region 205 [Gene]
  • LOC129929449:ATAC-STARR-seq lymphoblastoid active region 206 [Gene]
  • LOC129929450:ATAC-STARR-seq lymphoblastoid active region 208 [Gene]
  • LOC129929451:ATAC-STARR-seq lymphoblastoid active region 209 [Gene]
  • LOC129929452:ATAC-STARR-seq lymphoblastoid active region 210 [Gene]
  • LOC129929456:ATAC-STARR-seq lymphoblastoid active region 212 [Gene]
  • LOC129929457:ATAC-STARR-seq lymphoblastoid active region 213 [Gene]
  • LOC129929274:ATAC-STARR-seq lymphoblastoid active region 90 [Gene]
  • LOC129929279:ATAC-STARR-seq lymphoblastoid active region 92 [Gene]
  • LOC129929280:ATAC-STARR-seq lymphoblastoid active region 93 [Gene]
  • LOC129929281:ATAC-STARR-seq lymphoblastoid active region 98 [Gene]
  • LOC129929275:ATAC-STARR-seq lymphoblastoid silent region 185 [Gene]
  • LOC129929276:ATAC-STARR-seq lymphoblastoid silent region 186 [Gene]
  • LOC129929277:ATAC-STARR-seq lymphoblastoid silent region 187 [Gene]
  • LOC129929278:ATAC-STARR-seq lymphoblastoid silent region 188 [Gene]
  • LOC129929282:ATAC-STARR-seq lymphoblastoid silent region 190 [Gene]
  • LOC129929283:ATAC-STARR-seq lymphoblastoid silent region 191 [Gene]
  • LOC129929286:ATAC-STARR-seq lymphoblastoid silent region 192 [Gene]
  • LOC129929287:ATAC-STARR-seq lymphoblastoid silent region 193 [Gene]
  • LOC129929288:ATAC-STARR-seq lymphoblastoid silent region 194 [Gene]
  • LOC129929290:ATAC-STARR-seq lymphoblastoid silent region 195 [Gene]
  • LOC129929291:ATAC-STARR-seq lymphoblastoid silent region 196 [Gene]
  • LOC129929296:ATAC-STARR-seq lymphoblastoid silent region 197 [Gene]
  • LOC129929299:ATAC-STARR-seq lymphoblastoid silent region 198 [Gene]
  • LOC129929300:ATAC-STARR-seq lymphoblastoid silent region 199 [Gene]
  • LOC129929301:ATAC-STARR-seq lymphoblastoid silent region 200 [Gene]
  • LOC129929303:ATAC-STARR-seq lymphoblastoid silent region 201 [Gene]
  • LOC129929304:ATAC-STARR-seq lymphoblastoid silent region 203 [Gene]
  • LOC129929305:ATAC-STARR-seq lymphoblastoid silent region 207 [Gene]
  • LOC129929310:ATAC-STARR-seq lymphoblastoid silent region 208 [Gene]
  • LOC129929311:ATAC-STARR-seq lymphoblastoid silent region 209 [Gene]
  • LOC129929317:ATAC-STARR-seq lymphoblastoid silent region 210 [Gene]
  • LOC129929318:ATAC-STARR-seq lymphoblastoid silent region 211 [Gene]
  • LOC129929320:ATAC-STARR-seq lymphoblastoid silent region 212 [Gene]
  • LOC129929321:ATAC-STARR-seq lymphoblastoid silent region 214 [Gene]
  • LOC129929322:ATAC-STARR-seq lymphoblastoid silent region 215 [Gene]
  • LOC129929323:ATAC-STARR-seq lymphoblastoid silent region 216 [Gene]
  • LOC129929324:ATAC-STARR-seq lymphoblastoid silent region 217 [Gene]
  • LOC129929325:ATAC-STARR-seq lymphoblastoid silent region 218 [Gene]
  • LOC129929326:ATAC-STARR-seq lymphoblastoid silent region 219 [Gene]
  • LOC129929327:ATAC-STARR-seq lymphoblastoid silent region 220 [Gene]
  • LOC129929332:ATAC-STARR-seq lymphoblastoid silent region 222 [Gene]
  • LOC129929334:ATAC-STARR-seq lymphoblastoid silent region 223 [Gene]
  • LOC129929335:ATAC-STARR-seq lymphoblastoid silent region 224 [Gene]
  • LOC129929336:ATAC-STARR-seq lymphoblastoid silent region 225 [Gene]
  • LOC129929339:ATAC-STARR-seq lymphoblastoid silent region 226 [Gene]
  • LOC129929340:ATAC-STARR-seq lymphoblastoid silent region 227 [Gene]
  • LOC129929343:ATAC-STARR-seq lymphoblastoid silent region 228 [Gene]
  • LOC129929347:ATAC-STARR-seq lymphoblastoid silent region 229 [Gene]
  • LOC129929348:ATAC-STARR-seq lymphoblastoid silent region 231 [Gene]
  • LOC129929349:ATAC-STARR-seq lymphoblastoid silent region 232 [Gene]
  • LOC129929353:ATAC-STARR-seq lymphoblastoid silent region 236 [Gene]
  • LOC129929355:ATAC-STARR-seq lymphoblastoid silent region 237 [Gene]
  • LOC129929356:ATAC-STARR-seq lymphoblastoid silent region 238 [Gene]
  • LOC129929357:ATAC-STARR-seq lymphoblastoid silent region 239 [Gene]
  • LOC129929362:ATAC-STARR-seq lymphoblastoid silent region 242 [Gene]
  • LOC129929363:ATAC-STARR-seq lymphoblastoid silent region 243 [Gene]
  • LOC129929365:ATAC-STARR-seq lymphoblastoid silent region 244 [Gene]
  • LOC129929368:ATAC-STARR-seq lymphoblastoid silent region 245 [Gene]
  • LOC129929369:ATAC-STARR-seq lymphoblastoid silent region 246 [Gene]
  • LOC129929372:ATAC-STARR-seq lymphoblastoid silent region 247 [Gene]
  • LOC129929376:ATAC-STARR-seq lymphoblastoid silent region 248 [Gene]
  • LOC129929377:ATAC-STARR-seq lymphoblastoid silent region 249 [Gene]
  • LOC129929378:ATAC-STARR-seq lymphoblastoid silent region 250 [Gene]
  • LOC129929379:ATAC-STARR-seq lymphoblastoid silent region 251 [Gene]
  • LOC129929380:ATAC-STARR-seq lymphoblastoid silent region 252 [Gene]
  • LOC129929381:ATAC-STARR-seq lymphoblastoid silent region 253 [Gene]
  • LOC129929382:ATAC-STARR-seq lymphoblastoid silent region 254 [Gene]
  • LOC129929384:ATAC-STARR-seq lymphoblastoid silent region 256 [Gene]
  • LOC129929387:ATAC-STARR-seq lymphoblastoid silent region 257 [Gene]
  • LOC129929388:ATAC-STARR-seq lymphoblastoid silent region 258 [Gene]
  • LOC129929392:ATAC-STARR-seq lymphoblastoid silent region 259 [Gene]
  • LOC129929393:ATAC-STARR-seq lymphoblastoid silent region 260 [Gene]
  • LOC129929396:ATAC-STARR-seq lymphoblastoid silent region 261 [Gene]
  • LOC129929398:ATAC-STARR-seq lymphoblastoid silent region 262 [Gene]
  • LOC129929399:ATAC-STARR-seq lymphoblastoid silent region 263 [Gene]
  • LOC129929402:ATAC-STARR-seq lymphoblastoid silent region 264 [Gene]
  • LOC129929403:ATAC-STARR-seq lymphoblastoid silent region 265 [Gene]
  • LOC129929404:ATAC-STARR-seq lymphoblastoid silent region 266 [Gene]
  • LOC129929405:ATAC-STARR-seq lymphoblastoid silent region 267 [Gene]
  • LOC129929406:ATAC-STARR-seq lymphoblastoid silent region 268 [Gene]
  • LOC129929407:ATAC-STARR-seq lymphoblastoid silent region 269 [Gene]
  • LOC129929411:ATAC-STARR-seq lymphoblastoid silent region 270 [Gene]
  • LOC129929412:ATAC-STARR-seq lymphoblastoid silent region 271 [Gene]
  • LOC129929415:ATAC-STARR-seq lymphoblastoid silent region 272 [Gene]
  • LOC129929416:ATAC-STARR-seq lymphoblastoid silent region 273 [Gene]
  • LOC129929420:ATAC-STARR-seq lymphoblastoid silent region 275 [Gene]
  • LOC129929421:ATAC-STARR-seq lymphoblastoid silent region 276 [Gene]
  • LOC129929423:ATAC-STARR-seq lymphoblastoid silent region 279 [Gene]
  • LOC129929424:ATAC-STARR-seq lymphoblastoid silent region 280 [Gene]
  • LOC129929436:ATAC-STARR-seq lymphoblastoid silent region 281 [Gene]
  • LOC129929439:ATAC-STARR-seq lymphoblastoid silent region 282 [Gene]
  • LOC129929440:ATAC-STARR-seq lymphoblastoid silent region 283 [Gene]
  • LOC129929453:ATAC-STARR-seq lymphoblastoid silent region 284 [Gene]
  • LOC129929454:ATAC-STARR-seq lymphoblastoid silent region 285 [Gene]
  • LOC129929455:ATAC-STARR-seq lymphoblastoid silent region 286 [Gene]
  • LOC126805613:BRD4-independent group 4 enhancer GRCh37_chr1:10002582-10003781 [Gene]
  • LOC126805614:BRD4-independent group 4 enhancer GRCh37_chr1:10385546-10386745 [Gene]
  • LOC126805618:BRD4-independent group 4 enhancer GRCh37_chr1:11718034-11719233 [Gene]
  • LOC126805620:BRD4-independent group 4 enhancer GRCh37_chr1:12763477-12764676 [Gene]
  • LOC126805607:BRD4-independent group 4 enhancer GRCh37_chr1:8154529-8155728 [Gene]
  • C1orf167-AS1:C1orf167 antisense RNA 1 [Gene - HGNC]
  • CAMTA1-AS1:CAMTA1 antisense RNA 1 [Gene - HGNC]
  • CAMTA1-AS2:CAMTA1 antisense RNA 2 [Gene - HGNC]
  • CAMTA1-IT1:CAMTA1 intronic transcript 1 [Gene - HGNC]
  • LOC126805616:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:10683990-10685189 [Gene]
  • LOC126805622:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:12919058-12920257 [Gene]
  • LOC126805601:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:7377679-7378878 [Gene]
  • LOC126805603:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:7798026-7799225 [Gene]
  • LOC126805604:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:7886590-7887789 [Gene]
  • LOC126805610:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9377645-9378844 [Gene]
  • LOC126805611:CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:9657808-9659007 [Gene]
  • CENPS-CORT:CENPS-CORT readthrough [Gene - HGNC]
  • LOC115801416:CRISPRi-validated cis-regulatory element chr1.1957 [Gene]
  • DFFA:DNA fragmentation factor subunit alpha [Gene - OMIM - HGNC]
  • ENO1-AS1:ENO1 antisense RNA 1 [Gene - HGNC]
  • ERRFI1:ERBB receptor feedback inhibitor 1 [Gene - OMIM - HGNC]
  • ERRFI1-DT:ERRFI1 divergent transcript [Gene - HGNC]
  • EXOSC10-AS1:EXOSC10 antisense RNA 1 [Gene - HGNC]
  • FBXO2:F-box protein 2 [Gene - OMIM - HGNC]
  • FBXO44:F-box protein 44 [Gene - OMIM - HGNC]
  • FBXO6:F-box protein 6 [Gene - OMIM - HGNC]
  • GPR157:G protein-coupled receptor 157 [Gene - HGNC]
  • KIAA2013:KIAA2013 [Gene - HGNC]
  • MASP2:MBL associated serine protease 2 [Gene - OMIM - HGNC]
  • LOC126805617:MED14-independent group 3 enhancer GRCh37_chr1:10804287-10805486 [Gene]
  • LOC126805606:MED14-independent group 3 enhancer GRCh37_chr1:8105847-8107046 [Gene]
  • LOC112590822:MED14-independent group 3 enhancer GRCh37_chr1:8271352-8272551 [Gene]
  • LOC126805609:MED14-independent group 3 enhancer GRCh37_chr1:8933339-8934538 [Gene]
  • LOC126805612:MED14-independent group 3 enhancer GRCh37_chr1:9778914-9780113 [Gene]
  • MIR34AHG:MIR34A host gene [Gene - HGNC]
  • LOC129388431:MPRA-validated peak35 silencer [Gene]
  • LOC129388432:MPRA-validated peak36 silencer [Gene]
  • LOC129388433:MPRA-validated peak37 silencer [Gene]
  • LOC129388434:MPRA-validated peak40 silencer [Gene]
  • LOC129388435:MPRA-validated peak42 silencer [Gene]
  • LOC129388436:MPRA-validated peak44 silencer [Gene]
  • LOC129388437:MPRA-validated peak46 silencer [Gene]
  • LOC129388438:MPRA-validated peak52 silencer [Gene]
  • LOC129388439:MPRA-validated peak53 silencer [Gene]
  • LOC129388440:MPRA-validated peak54 silencer [Gene]
  • LOC129388441:MPRA-validated peak56 silencer [Gene]
  • LOC129388442:MPRA-validated peak57 silencer [Gene]
  • LOC129388443:MPRA-validated peak58 silencer [Gene]
  • LOC129388444:MPRA-validated peak62 silencer [Gene]
  • LOC129388445:MPRA-validated peak63 silencer [Gene]
  • LOC129388446:MPRA-validated peak64 silencer [Gene]
  • LOC129388447:MPRA-validated peak65 silencer [Gene]
  • LOC129388448:MPRA-validated peak66 silencer [Gene]
  • LOC129388449:MPRA-validated peak67 silencer [Gene]
  • LOC129388450:MPRA-validated peak69 silencer [Gene]
  • LOC129388451:MPRA-validated peak70 silencer [Gene]
  • LOC129388452:MPRA-validated peak73 silencer [Gene]
  • LOC129388453:MPRA-validated peak75 silencer [Gene]
  • MTOR-AS1:MTOR antisense RNA 1 [Gene - HGNC]
  • LOC111591499:NFE2L2 motif-containing MPRA enhancer 265 [Gene]
  • NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
  • LOC132088624:Neanderthal introgressed variant-containing enhancer experimental_247 [Gene]
  • LOC132088746:Neanderthal introgressed variant-containing enhancer experimental_9566 [Gene]
  • LOC132205952:Neanderthal introgressed variant-containing enhancers experimental_9573 and experimental_9584 [Gene]
  • LOC126805615:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:10588102-10589301 [Gene]
  • LOC126805619:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:11998825-12000024 [Gene]
  • LOC126805621:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:12775588-12776787 [Gene]
  • LOC126805602:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:7461491-7462690 [Gene]
  • LOC126805605:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:7929285-7930484 [Gene]
  • LOC126805608:P300/CBP strongly-dependent group 1 enhancer GRCh37_chr1:8156741-8157940 [Gene]
  • PIK3CD-AS1:PIK3CD antisense RNA 1 [Gene - HGNC]
  • PIK3CD-AS2:PIK3CD antisense RNA 2 [Gene - HGNC]
  • PRAMEF10:PRAME family member 10 [Gene - HGNC]
  • PRAMEF11:PRAME family member 11 [Gene - HGNC]
  • PRAMEF12:PRAME family member 12 [Gene - HGNC]
  • PRAMEF1:PRAME family member 1 [Gene - HGNC]
  • PRAMEF25:PRAME family member 25 [Gene - HGNC]
  • PRAMEF27:PRAME family member 27 [Gene - HGNC]
  • PRAMEF2:PRAME family member 2 [Gene - HGNC]
  • PRAMEF4:PRAME family member 4 [Gene - HGNC]
  • PRAMEF6:PRAME family member 6 [Gene - HGNC]
  • PRAMEF7:PRAME family member 7 [Gene - HGNC]
  • PARK7:Parkinsonism associated deglycase [Gene - OMIM - HGNC]
  • RERE-AS1:RERE antisense RNA 1 [Gene - HGNC]
  • RNU5E-1:RNA, U5E small nuclear 1 [Gene - OMIM - HGNC]
  • LOC108281189:RPL7AP18-LOC102724539 intergenic ENCODE-defined enhancer [Gene]
  • LOC121967076:Sharpr-MPRA regulatory region 10351 [Gene]
  • LOC121967081:Sharpr-MPRA regulatory region 10571 [Gene]
  • LOC120893113:Sharpr-MPRA regulatory region 11784 [Gene]
  • LOC121967067:Sharpr-MPRA regulatory region 13529 [Gene]
  • LOC121967071:Sharpr-MPRA regulatory region 14190 [Gene]
  • LOC120883623:Sharpr-MPRA regulatory region 1458 [Gene]
  • LOC121967082:Sharpr-MPRA regulatory region 15009 [Gene]
  • LOC121967073:Sharpr-MPRA regulatory region 15261 [Gene]
  • LOC121677386:Sharpr-MPRA regulatory region 1652 [Gene]
  • LOC121967063:Sharpr-MPRA regulatory region 2737 [Gene]
  • LOC121967077:Sharpr-MPRA regulatory region 3012 [Gene]
  • LOC121967075:Sharpr-MPRA regulatory region 3136 [Gene]
  • LOC121967069:Sharpr-MPRA regulatory region 3390 [Gene]
  • LOC121967061:Sharpr-MPRA regulatory region 3725 [Gene]
  • LOC121967062:Sharpr-MPRA regulatory region 3772 [Gene]
  • LOC121967078:Sharpr-MPRA regulatory region 3841 [Gene]
  • LOC121967079:Sharpr-MPRA regulatory region 3932 [Gene]
  • LOC112577472:Sharpr-MPRA regulatory region 3946 [Gene]
  • LOC121967072:Sharpr-MPRA regulatory region 4147 [Gene]
  • LOC112577487:Sharpr-MPRA regulatory region 4366 [Gene]
  • LOC121967068:Sharpr-MPRA regulatory region 4622 [Gene]
  • LOC112577488:Sharpr-MPRA regulatory region 5682 [Gene]
  • LOC121967074:Sharpr-MPRA regulatory region 5895 [Gene]
  • LOC121967065:Sharpr-MPRA regulatory region 599 [Gene]
  • LOC121967080:Sharpr-MPRA regulatory region 6671 [Gene]
  • LOC120883621:Sharpr-MPRA regulatory region 7425 [Gene]
  • LOC112590823:Sharpr-MPRA regulatory region 7894 [Gene]
  • LOC121967070:Sharpr-MPRA regulatory region 8161 [Gene]
  • LOC112577486:Sharpr-MPRA regulatory region 8260 [Gene]
  • LOC121967066:Sharpr-MPRA regulatory region 8357 [Gene]
  • LOC112590821:Sharpr-MPRA regulatory region 865 [Gene]
  • LOC121967083:Sharpr-MPRA regulatory region 8719 [Gene]
  • LOC121967064:Sharpr-MPRA regulatory region 9077 [Gene]
  • LOC120883620:Sharpr-MPRA regulatory region 9811 [Gene]
  • LOC120883622:Sharpr-MPRA regulatory region 9854 [Gene]
  • TARDBP:TAR DNA binding protein [Gene - OMIM - HGNC]
  • TNFRSF1B:TNF receptor superfamily member 1B [Gene - OMIM - HGNC]
  • TNFRSF8:TNF receptor superfamily member 8 [Gene - OMIM - HGNC]
  • TNFRSF9:TNF receptor superfamily member 9 [Gene - OMIM - HGNC]
  • UBIAD1:UbiA prenyltransferase domain containing 1 [Gene - OMIM - HGNC]
  • LOC110121160:VISTA enhancer hs1615 [Gene]
  • LOC110121213:VISTA enhancer hs1833 [Gene]
  • LOC110121258:VISTA enhancer hs2094 [Gene]
  • LOC114827827:VISTA enhancer hs2123 [Gene]
  • LOC110121260:VISTA enhancer hs2125 [Gene]
  • LOC110120623:VISTA enhancer hs241 [Gene]
  • LOC110120648:VISTA enhancer hs289 [Gene]
  • LOC110120666:VISTA enhancer hs389 [Gene]
  • LOC110120672:VISTA enhancer hs408 [Gene]
  • ANGPTL7:angiopoietin like 7 [Gene - OMIM - HGNC]
  • AGTRAP:angiotensin II receptor associated protein [Gene - OMIM - HGNC]
  • RERE:arginine-glutamic acid dipeptide repeats [Gene - OMIM - HGNC]
  • AADACL3:arylacetamide deacetylase like 3 [Gene - HGNC]
  • AADACL4:arylacetamide deacetylase like 4 [Gene - HGNC]
  • CAMTA1:calmodulin binding transcription activator 1 [Gene - OMIM - HGNC]
  • CLSTN1:calsyntenin 1 [Gene - OMIM - HGNC]
  • CA6:carbonic anhydrase 6 [Gene - OMIM - HGNC]
  • CASZ1:castor zinc finger 1 [Gene - OMIM - HGNC]
  • CTNNBIP1:catenin beta interacting protein 1 [Gene - OMIM - HGNC]
  • CENPS:centromere protein S [Gene - OMIM - HGNC]
  • CLCN6:chloride voltage-gated channel 6 [Gene - OMIM - HGNC]
  • C1orf127:chromosome 1 open reading frame 127 [Gene - OMIM - HGNC]
  • C1orf167:chromosome 1 open reading frame 167 [Gene - HGNC]
  • CFAP107:cilia and flagella associated protein 107 [Gene - HGNC]
  • CORT:cortistatin [Gene - OMIM - HGNC]
  • DHRS3:dehydrogenase/reductase 3 [Gene - OMIM - HGNC]
  • DISP3:dispatched RND transporter family member 3 [Gene - OMIM - HGNC]
  • DRAXIN:dorsal inhibitory axon guidance protein [Gene - OMIM - HGNC]
  • ENO1:enolase 1 [Gene - OMIM - HGNC]
  • EXOSC10:exosome component 10 [Gene - OMIM - HGNC]
  • LOC112590825:hESC enhancers GRCh37_chr1:9653469-9654066 and GRCh37_chr1:9654067-9654663 [Gene]
  • HNRNPCL1:heterogeneous nuclear ribonucleoprotein C like 1 [Gene - HGNC]
  • HNRNPCL3:heterogeneous nuclear ribonucleoprotein C like 3 [Gene - HGNC]
  • H6PD:hexose-6-phosphate dehydrogenase/glucose 1-dehydrogenase [Gene - OMIM - HGNC]
  • KIF1B:kinesin family member 1B [Gene - OMIM - HGNC]
  • LZIC:leucine zipper and CTNNBIP1 domain containing [Gene - OMIM - HGNC]
  • LINC01647:long intergenic non-protein coding RNA 1647 [Gene - HGNC]
  • LINC01714:long intergenic non-protein coding RNA 1714 [Gene - HGNC]
  • LINC01784:long intergenic non-protein coding RNA 1784 [Gene - HGNC]
  • LINC02606:long intergenic non-protein coding RNA 2606 [Gene - HGNC]
  • LINC02766:long intergenic non-protein coding RNA 2766 [Gene - HGNC]
  • LNCTAM34A:long non coding transcriptional activator of miR34a [Gene - HGNC]
  • MTOR:mechanistic target of rapamycin kinase [Gene - OMIM - HGNC]
  • MTHFR:methylenetetrahydrofolate reductase [Gene - OMIM - HGNC]
  • MIR34A:microRNA 34a [Gene - OMIM - HGNC]
  • MIR4632:microRNA 4632 [Gene - HGNC]
  • MIR5697:microRNA 5697 [Gene - HGNC]
  • MIR6728:microRNA 6728 [Gene - HGNC]
  • MIR6729:microRNA 6729 [Gene - HGNC]
  • MIR6730:microRNA 6730 [Gene - HGNC]
  • MIR7846:microRNA 7846 [Gene - HGNC]
  • MIIP:migration and invasion inhibitory protein [Gene - OMIM - HGNC]
  • MFN2:mitofusin 2 [Gene - OMIM - HGNC]
  • MAD2L2:mitotic arrest deficient 2 like 2 [Gene - OMIM - HGNC]
  • NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
  • NPPB:natriuretic peptide B [Gene - OMIM - HGNC]
  • NMNAT1:nicotinamide nucleotide adenylyltransferase 1 [Gene - OMIM - HGNC]
  • LOC106783575:nonconserved acetylation island sequence 67 enhancer [Gene]
  • PER3:period circadian regulator 3 [Gene - OMIM - HGNC]
  • PEX14:peroxisomal biogenesis factor 14 [Gene - OMIM - HGNC]
  • PIK3CD:phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta [Gene - OMIM - HGNC]
  • PGD:phosphogluconate dehydrogenase [Gene - OMIM - HGNC]
  • PLOD1:procollagen-lysine,2-oxoglutarate 5-dioxygenase 1 [Gene - OMIM - HGNC]
  • RBP7:retinol binding protein 7 [Gene - OMIM - HGNC]
  • SNORD128:small nucleolar RNA, C/D box 128 [Gene - HGNC]
  • SNORA59A:small nucleolar RNA, H/ACA box 59A [Gene - HGNC]
  • SLC2A5:solute carrier family 2 member 5 [Gene - OMIM - HGNC]
  • SLC2A7:solute carrier family 2 member 7 [Gene - OMIM - HGNC]
  • SLC25A33:solute carrier family 25 member 33 [Gene - OMIM - HGNC]
  • SLC45A1:solute carrier family 45 member 1 [Gene - OMIM - HGNC]
  • SRM:spermidine synthase [Gene - OMIM - HGNC]
  • SPSB1:splA/ryanodine receptor domain and SOCS box containing 1 [Gene - OMIM - HGNC]
  • LOC105376689:translation initiation factor IF-2 [Gene]
  • TMEM201:transmembrane protein 201 [Gene - HGNC]
  • UBE4B:ubiquitination factor E4B [Gene - OMIM - HGNC]
  • UTS2:urotensin 2 [Gene - OMIM - HGNC]
  • VPS13D:vacuolar protein sorting 13 homolog D [Gene - OMIM - HGNC]
  • VAMP3:vesicle associated membrane protein 3 [Gene - OMIM - HGNC]
Variant type:
copy number loss
Cytogenetic location:
1p36.23-36.21
Genomic location:
Preferred name:
GRCh38/hg38 1p36.23-36.21(chr1:7165036-13111056)x1
HGVS:
  • NC_000001.11:g.(?_7165036)_(13111056_?)del
  • NC_000001.10:g.(?_7225096)_(13178528_?)del
  • NC_000001.9:g.(?_7147683)_(13101115_?)del
Links:
dbVar: nssv577179; dbVar: nsv532413
Observations:
1

Condition(s)

Name:
See cases [See the Variation display for details]
Identifiers:

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000081118GeneDx
criteria provided, single submitter

(Kaminsky et al. (Genet Med. 2011))		Pathogenic
(Aug 12, 2011) 		de novoclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.

Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, Moreno-De-Luca D, Moreno-De-Luca A, Mulle JG, Warren ST, Richard G, Compton JG, Fuller AE, Gliem TJ, Huang S, Collinson MN, Beal SJ, Ackley T, Pickering DL, Golden DM, Aston E, Whitby H, et al.

Genet Med. 2011 Sep;13(9):777-84. doi: 10.1097/GIM.0b013e31822c79f9.

PubMed [citation]
PMID:
21844811
PMCID:
PMC3661946

Details of each submission

From GeneDx, SCV000081118.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providedDiscovery1not providednot providednot provided

Last Updated: Nov 20, 2023