Annotation Detail
Information
- Associated Genes
- ALOX12 ALOX15 ARRB2 ASGR1 ASGR2 ATP2A3 C1QBP CHRNE CTNS ENO3 GP1BA ITGAE NUP88 P2RX1 P2RX5 PFN1 PLD2 PSMB6 UBE2G1 TRPV1 ZNF232 SLC25A11 TM4SF5 USP6 RABEP1 SPAG7 KIAA0753 CLEC10A MYBBP1A KIF1C NLRP1 CAMTA2 ZZEF1 WSCD1 SHPK AIPL1 RNF167 PELP1 TAX1BP3 MINK1 MED31 DERL2 ANKFY1 PIMREG XAF1 SLC52A1 NCBP3 DHX33 CXCL16 MIS12 PITPNM3 EMC6 TEKT1 HASPIN ZMYND15 CAMKK1 RPAIN ZNF594 TXNDC17 CYB5D2 C17orf49 ZFP3 GGT6 SPNS2 SLC16A11 FBXO39 SLC16A13 SPNS3 BCL6B VMO1 SLC13A5 LOC339166 SMTNL2 GLTPD2 INCA1 SCIMP C17orf100 LINC01996 MED11 MIR195 RNASEK MIR497 LOC728392 C17orf107 ZNF594-DT ALOX12-AS1 MIR497HG RNASEK-C17orf49 P2RX5-TAX1BP3 MIR4520-1 MIR4520-2 PELP1-DT CAMTA2-AS1 ZNF232-AS1 MIR6864 MIR6865 KIF1C-AS1 CTNS-AS1 LINC01975 DHX33-DT LOC106799838 LOC111556120 LOC112529915 LOC112533656 LOC112533657 ZFP3-DT C17orf114 LOC121587571 LOC121587572 LOC121848005 LOC121848006 LOC122526780 LOC125177407 LOC125177408 LOC125177409 LOC125177410 LOC125177411 LOC125177412 LOC126862464 LOC126862465 LOC126862466 LOC126862467 LOC126862468 LOC126862469 LOC126862470 LOC126862471 LOC126862472 LOC126862473 LOC126862474 LOC126862475 LOC126862476 LOC126862477 LOC126862478 LOC129390823 LOC129390824 LOC129390825 LOC129390826 LOC129390827 LOC129390828 LOC129390829 LOC129390830 LOC130059979 LOC130059980 LOC130059981 LOC130059982 LOC130059983 LOC130059984 LOC130059985 LOC130059986 LOC130059987 LOC130059988 LOC130059989 LOC130059990 LOC130059991 LOC130059992 LOC130059993 LOC130059994 LOC130059995 LOC130059996 LOC130059997 LOC130059998 LOC130059999 LOC130060000 LOC130060001 LOC130060002 LOC130060003 LOC130060004 LOC130060005 LOC130060006 LOC130060007 LOC130060008 LOC130060009 LOC130060010 LOC130060011 LOC130060012 LOC130060013 LOC130060014 LOC130060015 LOC130060016 LOC130060017 LOC130060018 LOC130060019 LOC130060020 LOC130060021 LOC130060022 LOC130060023 LOC130060024 LOC130060025 LOC130060026 LOC130060027 LOC130060028 LOC130060029 LOC130060030 LOC130060031 LOC130060032 LOC130060033 LOC130060034 LOC130060035 LOC130060036 LOC130060037 LOC130060038 LOC130060039 LOC130060040 LOC130060041 LOC130060042 LOC130060043 LOC130060044 LOC130060045 LOC130060046 LOC130060047 LOC130060048 LOC130060049 LOC130060050 LOC130060051 LOC130060052 LOC130060053 LOC130060054 LOC130060055 LOC130060056 LOC130060057 LOC130060058 LOC130060059 LOC130060060 LOC130060061 LOC130060062 LOC130060063 LOC130060064 LOC130060065 LOC130060066 LOC130060067 LOC130060068 LOC130060069 LOC130060070 LOC130060071 LOC130060072 LOC130060073 LOC130060074 LOC130060075 LOC130060076 LOC130060077 LOC130060078 LOC130060079 LOC130060080 LOC130060081 LOC130060082 LOC130060083 LOC130060084 LOC130060085 LOC130060086 LOC130060087 LOC130060088 LOC130060089 LOC130060090 LOC130060091 LOC130060092 LOC130060093 LOC130060094 LOC130060095 LOC130060096 LOC130060097 LOC130060098 LOC130060099 LOC130060100 LOC130060101 LOC130060102 LOC130060103 LOC130060104 LOC130060105 LOC130060106 LOC130060107 LOC130060108 LOC130060109 LOC130060110 LOC130060111 LOC132090460 LOC132090461 LOC132090462 LOC132090463 LOC132090464 LOC132090465 LOC132090466 LOC132090467 LOC132090468 LOC132090469 LOC132090470 LOC132090471 LOC132090472 LOC132090473 LOC132090474 LOC132090475 LOC132090476 LOC132090893
- Associated Variants
-
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1
GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 17p13.2-13.1(chr17:3601515-7178024)x1 AND See cases
- ClinVar Allele ID
- 74158
- 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/RCV000053406
- Observed Origin Sample
- de novo
Drugs