Annotation Detail
Information
- Associated Genes
- CSRP2 KCNC2 NAP1L1 CNOT2 PTPRB PTPRR TSPAN8 LGR5 GLIPR1 KRR1 PHLDA1 RAB21 ZDHHC17 KCNMB4 TRHDE TMEM19 TBC1D15 BBS10 THAP2 CAPS2 OSBPL8 RAB3IP TPH2 GLIPR1L2 ZFC3H1 MYRFL GLIPR1L1 TRHDE-AS1 ATXN7L3B LOC100130268 LINC02882 PRANCR LINC02444 LINC02445 LINC02394 LNCOG LOC105369850 LOC111365152 LOC112163631 LOC112163632 PHLDA1-DT PHLDA1-AS1 GLIPR1-AS1 LOC124629403 LOC124629404 LOC124629407 LOC124629408 LOC124629409 LOC124629410 LOC124629411 LOC124629412 LOC124629413 LOC124629414 LOC124629415 LOC126861567 LOC126861568 LOC126861569 LOC126861570 LOC126861571 LOC126861572 LOC126861573 LOC126861574 LOC126861575 LOC126861576 LOC129390483 LOC129390484 LOC129390485 LOC129390486 LOC129390487 LOC129390488 LOC129390489 LOC129390490 LOC129390491 LOC129390492 LOC129390493 LOC129390494 LOC129390495 LOC129390496 LOC129390497 LOC129390498 LOC129390499 LOC129390500 LOC129390501 LOC129390502 LOC129390503 LOC129390504 LOC129390505 LOC129390506 LOC129390507 LOC129390508 LOC129390509 LOC129390510 LOC130008287 LOC130008288 LOC130008289 LOC130008290 LOC130008291 LOC130008292 LOC130008293 LOC130008294 LOC130008295 LOC130008296 LOC130008297 LOC130008298 LOC130008299 LOC130008300 LOC130008301 LOC130008302 LOC130008303 LOC130008304 LOC130008305 LOC130008306 LOC130008307 LOC130008308 LOC130008309 LOC130008310 LOC130008311 LOC130008312 LOC130008313 LOC130008314 LOC130008315 LOC130008316 LOC130008317 LOC130008318 LOC130008319 LOC132090140 LOC132090141
- Associated Variants
-
GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1
GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 12q15-21.2(chr12:69769737-76964217)x1 AND See cases
- ClinVar Allele ID
- 156797
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-03-08
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000136267
- Observed Origin Sample
- de novo
Drugs