Annotation Detail
Information
- Associated Genes
- AARS1 AP1G1 ZFHX3 CALB2 CTRB1 DHODH GLG1 HP HPR KARS1 CHST6 PSMD7 ST3GAL2 TAT TRG-GCC3-1 ZNF19 ZNF23 BCAR1 DHX38 IST1 CHST4 CFDP1 WWP2 DDX19B GABARAPL2 PHLPP2 SF3B3 ADAT1 CHST5 COG4 TERF2IP HYDIN TXNL4B PDPR RFWD3 DDX19A ZNF821 VAC14 CMTR2 FA2H TMEM231 WDR59 PMFBP1 ZNRF1 CNTNAP4 MARVELD3 MTSS2 EXOSC6 TMEM170A IL34 ZFP1 LDHD FCSK MLKL HCCAT5 CLEC18C ATXN1L PKD1L3 CLEC18A LOC400541 MIR140 NPIPB15 CTRB2 CLEC18B SNORD71 SNORD111 DUXB SNORD111B VAC14-AS1 TAT-AS1 TRG-GCC2-4 TRK-TTT1-1 TRM-CAT2-1 TRG-GCC2-5 TRG-GCC5-1 SNORA70D MIR1972-2 DDX19A-DT LOHAN2 LOC100506281 LINC01572 ZFHX3-AS1 PSMD7-DT LINC02125 TLE7 LOC105371328 LINC02136 LOC105371335 CPHXL LOC105371347 LOC105376772 LOC108251797 LOC108254672 LOC110120571 LOC110120572 LOC110120573 LOC110120824 LOC110121410 LOC110121436 LOC111413029 CPHXL2 LOC112486204 LOC112486205 LOC112486206 LOC112486207 LOC121587553 LOC121587554 LOC121587555 LOC121587556 LOC121587557 LOC121587558 LOC121587559 LOC121587560 LOC121587561 LOC121847990 LOC121847991 LOC121847992 LOC125177345 LOC125177346 LOC125177347 LOC125177348 LOC125177349 LOC125177350 LOC125177351 LOC125177352 LOC125177353 LOC125177354 LOC126862385 LOC126862386 LOC126862387 LOC126862388 LOC126862389 LOC126862390 LOC126862391 LOC126862392 LOC126862393 LOC126862394 LOC126862395 LOC126862396 LOC126862397 LOC126862398 LOC126862399 LOC126862400 LOC126862401 LOC126862402 LOC126862403 LOC126862404 LOC129390808 LOC129390809 LOC129390810 PCHILR 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 LOC130059391 LOC130059392 LOC130059393 LOC130059394 LOC130059395 LOC130059396 LOC130059397 LOC130059398 LOC130059399 LOC130059400 LOC130059401 LOC130059402 LOC130059403 LOC130059404 LOC130059405 LOC130059406 LOC130059407 LOC130059408 LOC130059409 LOC130059410 LOC130059411 LOC130059412 LOC130059413 LOC130059414 LOC130059415 LOC130059416 LOC130059417 LOC130059418 LOC130059419 LOC130059420 LOC130059421 LOC130059422 LOC130059423 LOC130059424 LOC130059425 LOC130059426 LOC130059427 LOC130059428 LOC130059429 LOC130059430 LOC130059431 LOC130059432 LOC130059433 LOC130059434 LOC130059435 LOC130059436 LOC130059437 LOC130059438 LOC130059439 LOC130059440 LOC130059441 LOC130059442 LOC130059443 LOC130059444 LOC130059445 LOC130059446 LOC130059447 LOC130059448 LOC130059449 LOC130059450 LOC130059451 LOC130059452 LOC130059453 LOC130059454 LOC132090391 LOC132090392 LOC132090393 LOC132090394 LOC132090395 LOC132090396 LOC132090397 LOC132090398 LOC132090400 LOC132090401 LOC132090402 LOC132090403
- Associated Variants
-
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1
GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1 AND See cases
- ClinVar Allele ID
- 74109
- 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/RCV000053356
- Observed Origin Sample
- not provided
Drugs