Annotation Detail
Information
- Associated Genes
- BCL9 FMO5 GJA5 GJA8 PDZK1 PRKAB2 RNVU1-2A TRN-GTT2-7 ITGA10 PEX11B CHD1L PDE4DIP RBM8A PIAS3 POLR3C TXNIP CD160 NBPF14 RNVU1-18 RNVU1-7 RNF115 ACP6 GPR89B POLR3GL LIX1L HJV ANKRD35 NBPF12 NBPF11 NUDT17 LINC02806 NBPF15 ANKRD34A NOTCH2NLA LINC01138 LINC02591 NBPF9 NUDT4B H3-7 FAM72C PPIAL4G PPIAL4D SRGAP2B GPR89A FAM72D PPIAL4F PPIAL4E TRN-GTT6-1 NBPF10 TRH-GTG1-1 TRQ-CTG7-1 TRN-GTT2-1 TRQ-CTG4-1 TRG-TCC2-1 TRN-GTT2-8 TRQ-CTG3-2 TRV-CAC8-1 TRH-GTG1-4 TRN-GTT9-2 TRK-CTT2-1 TRQ-CTG4-2 TRH-GTG1-3 TRN-GTT3-1 TRV-CAC4-1 TRH-GTG1-2 TRN-GTT12-1 TRE-CTC1-1 NBPF20 HYDIN2 LINC00624 LINC02805 MIR5087 LOC100996740 NOTCH2NLB RNVU1-8 LOC101927468 LINC01719 RNVU1-14 RNVU1-15 RNVU1-17 RNVU1-3 RNVU1-1 RNVU1-6 MIR6736 MIR6077 LINC01145 LOC105371215 LINC01731 PPIAL4H LIX1L-AS1 LOC106783502 TRN-GTT9-1 TRN-GTT10-1 TRQ-CTG3-1 TRN-GTT24-1 LOC108254679 LOC110121261 LOC111556113 LOC112577490 LOC113939979 LOC120893158 LOC121725051 LOC121725052 LOC121725053 LOC122094913 LOC122128410 LOC122128414 LOC122128415 LOC122128417 LOC122128418 LOC122128419 LOC122128420 RNVU1-28 RNVU1-31 RNVU1-27 RNVU1-26 LOC126088083 LOC126088084 LOC126805849 LOC126805850 LOC126805851 LOC126805852 LOC126805853 LOC126805854 LOC128071544 LOC129388601 LOC129388602 LOC129388603 LOC129388604 LOC129931319 LOC129931320 LOC129931321 LOC129931322 LOC129931323 LOC129931324 LOC129931325 LOC129931326 LOC129931327 LOC129931328 LOC129931329 LOC129931330 LOC129931331 LOC129931332 LOC129931333 LOC129931334 LOC129931335 LOC129931336 LOC129931337 LOC129931338 LOC129931339 LOC129931340 LOC129931341 LOC129931342 LOC129931343 LOC129931344 LOC129931345 LOC129931346 LOC129931347 LOC129931348 LOC129931349 LOC129931350 LOC129931351 LOC129931352 LOC129931353 LOC129931354 LOC129931355 LOC129931356 LOC129931357 LOC129931358 LOC129931359 LOC129931360 LOC129931361 LOC129931362 LOC129931363 LOC129931364 LOC129931365 LOC129931366 LOC129931367 LOC129931368
- Associated Variants
-
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3
GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 1q21.1-21.2(chr1:143515074-149076087)x3 AND See cases
- ClinVar Allele ID
- 157461
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-10-19
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000136866
- Observed Origin Sample
- not provided
Drugs