Annotation Detail

Information
Associated Genes
BST2 COMP NCAN NR2F6 GDF1 IL12RB1 INSL3 JAK3 JUND KCNN1 CYP4F3 BORCS8-MEF2B RAB8A MYO9B NOTCH3 PDE4C PIK3R2 RAB3A UPF1 RPL18A SLC5A5 TPM4 UBA52 ZNF14 ZNF708 ZNF43 ZNF66 ZNF85 ZNF90 ZNF91 ZNF99 ZNF208 ELL CYP4F2 RFXANK AP1M1 F2RL3 LPAR2 CRLF1 MED26 HOMER3 GDF15 ZNF254 SUGP2 AKAP8 B3GNT3 KLF2 IFI30 CHERP CERS1 CYP4F8 COPE UNC13A MAST3 FCHO1 SIN3B CRTC1 MAU2 BRD4 FKBP8 TMEM59L PGLS LSM4 FAM32A OR10H3 OR10H2 OR10H1 SNORA68 AKAP8L ARRDC2 CPAMD8 BABAM1 NDUFA13 GMIP ISYNA1 TM6SF2 DDX49 GATAD2A PGPEP1 TMEM161A REX1BD MAP1S KLHL26 USE1 ZNF253 ATP13A1 ZNF492 ANO8 SUGP1 CYP4F11 EPS15L1 WIZ RASAL3 MRPL34 CYP4F12 DDA1 KXD1 TMEM38A SMIM7 ABHD8 OCEL1 COLGALT1 EPHX3 SLC35E1 ZNF430 PBX4 IQCN ZNF93 PLVAP USHBP1 TSSK6 C19orf44 GTPBP3 MPV17L2 HSH2D ZNF486 ZNF682 HAUS8 MVB12A ARMC6 ZNF101 ZNF257 PGLYRP2 CCDC124 NXNL1 CIB3 CALR3 LRRC25 NR2C2AP CYP4F22 LINC00661 OR10H4 ANKLE1 CILP2 ZNF98 ZNF738 ZNF714 ZNF681 LINC00905 ZNF676 ZNF100 SSBP4 ZNF431 ZNF675 ZNF626 NIBAN3 OR10H5 NWD1 SLC25A42 LINC00663 ZNF493 ZNF429 YJEFN3 LINC01785 SLC27A1 ZNF728 RPSA2 LINC00664 HAPLN4 ZNF506 ZNF724 ZNF723 UCA1 MIR640 CIST1 BORCS8 ZNF726 LINC01233 ZNF730 ZNF737 TMEM221 MEF2B ZNF729 MIR1470 MIR1270 MIR3188 MIR3189 LOC100505851 PGLS-DT LOC101929124 LINC01858 LINC01859 MIR6795 HOMER3-AS1 LOC102725254 LINC01224 BISPR UCA1-AS1 LINC01855 ERVS71-1 LOC105372321 LOC105376917 LOC106783503 SNORA118 CCDC194 LOC112543462 LOC112543463 LOC112543464 LOC112543465 LOC112543466 LOC112543467 LOC112543468 LOC112543469 LOC112543470 LOC112543471 LOC112543472 LOC112543473 LOC116276507 LOC116276508 LOC116276509 LOC116276510 LOC116276511 LOC116276512 KLF2-DT LOC121627859 LOC121627860 LOC121627861 LOC121627862 LOC121627863 LOC121627864 LOC121627865 LOC121627866 LOC121627867 LOC121852982 LOC121852983 LOC121852984 LOC121852985 LOC125371486 LOC125371487 LOC125371488 LOC125371489 LOC125371491 LOC125371492 LOC125371493 LOC125371494 LOC125371495 LOC125371496 LOC125371497 LOC125371498 LOC125371499 LOC125371500 LOC126862871 LOC126862872 LOC126862873 LOC126862874 LOC126862875 LOC126862876 LOC126862877 LOC126862878 LOC126862879 LOC126862880 LOC126862881 LOC126862882 LOC126862883 LOC126862884 LOC126862885 LOC126862886 LINC03085 LOC128854698 LOC129391075 LOC129391076 LOC129391077 LOC129391078 LOC129391079 LOC129391080 LOC129391081 LOC129391082 LOC129391083 LOC129391084 LOC129391085 LOC130063807 LOC130063808 LOC130063809 LOC130063810 LOC130063811 LOC130063812 LOC130063813 LOC130063814 LOC130063815 LOC130063816 LOC130063817 LOC130063818 LOC130063819 LOC130063820 LOC130063821 LOC130063822 LOC130063823 LOC130063824 LOC130063825 LOC130063826 LOC130063827 LOC130063828 LOC130063829 LOC130063830 LOC130063831 LOC130063832 LOC130063833 LOC130063834 LOC130063835 LOC130063836 LOC130063837 LOC130063838 LOC130063839 LOC130063840 LOC130063841 LOC130063842 LOC130063843 LOC130063844 LOC130063845 LOC130063846 LOC130063847 LOC130063848 LOC130063849 LOC130063850 LOC130063851 LOC130063852 LOC130063853 LOC130063854 LOC130063855 LOC130063856 LOC130063857 LOC130063858 LOC130063859 LOC130063860 LOC130063861 LOC130063862 LOC130063863 LOC130063864 LOC130063865 LOC130063866 LOC130063867 LOC130063868 LOC130063869 LOC130063870 LOC130063871 LOC130063872 LOC130063873 LOC130063874 LOC130063875 LOC130063876 LOC130063877 LOC130063878 LOC130063879 LOC130063880 LOC130063881 LOC130063882 LOC130063883 LOC130063884 LOC130063885 LOC130063886 LOC130063887 LOC130063888 LOC130063889 LOC130063890 LOC130063891 LOC130063892 LOC130063893 LOC130063894 LOC130063895 LOC130063896 LOC130063897 LOC130063898 LOC130063899 LOC130063900 LOC130063901 LOC130063902 LOC130063903 LOC130063904 LOC130063905 LOC130063906 LOC130063907 LOC130063908 LOC130063909 LOC130063910 LOC130063911 LOC130063912 LOC130063913 LOC130063914 LOC130063915 LOC130063916 LOC130063917 LOC130063918 LOC130063919 LOC130063920 LOC130063921 LOC130063922 LOC130063923 LOC130063924 LOC130063925 LOC130063926 LOC130063927 LOC130063928 LOC130063929 LOC130063930 LOC130063931 LOC130063932 LOC130063933 LOC130063934 LOC130063935 LOC130063936 LOC130063937 LOC130063938 LOC130063939 LOC130063940 LOC130063941 LOC130063942 LOC130063943 LOC130063944 LOC130063945 LOC130063946 LOC130063947 LOC130063948 LOC130063949 LOC130063950 LOC130063951 LOC130063952 LOC130063953 LOC130063954 LOC130063955 LOC130063956 LOC130063957 LOC130063958 LOC130063959 LOC130063960 LOC130063961 LOC130063962 LOC130063963 LOC130063964 LOC130063965 LOC130063966 LOC130063967 LOC130063968 LOC130063969 LOC130063970 LOC130063971 LOC130063972 LOC130063973 LOC130063974 LOC130063975 LOC130063976 LOC130063977 LOC130063978 LOC130063979 LOC130063980 LOC130063981 LOC130063982 LOC130063983 LOC130063984 LOC130063985 LOC130063986 LOC130063987 LOC130063988 LOC130063989 LOC130063990 LOC130063991 LOC130063992 LOC130063993 LOC130063994 LOC130063995 LOC130063996 LOC130063997 LOC130063998 LOC130063999 LOC130064000 LOC130064001 LOC130064002 LOC130064003 LOC130064004 LOC130064005 LOC130064006 LOC130064007 LOC130064008 LOC130064009 LOC130064010 LOC130064011 LOC130064012 LOC130064013 LOC130064014 LOC130064015 LOC130064016 LOC130064017 LOC130064018 LOC130064019 LOC130064020 LOC130064021 LOC130064022 LOC130064023 LOC130064024 LOC130064025 LOC130064026 LOC130064027 LOC130064028 LOC130064029 LOC130064030 LOC130064031 LOC130064032 LOC130064033 LOC130064034 LOC130064035 LOC130064036 LOC130064037 LOC130064038 LOC130064039 LOC130064040 LOC130064041 LOC130064042 LOC130064043 LOC130064044 LOC130064045 LOC130064046 LOC130064047 LOC130064048 LOC130064049 LOC130064050 LOC130064051 LOC130064052 LOC130064053 LOC130064054 LOC130064055 LOC130064056 LOC130064057 LOC130064058 LOC130064059 LOC130064060 LOC130064061 LOC130064062 LOC130064063 LOC130064064 LOC130064065 LOC130064066 LOC130064067 LOC130064068 LOC130064069 LOC130064070 LOC130064071 LOC130064072 LOC130064073 LOC130064074 LOC130064075 LOC130064076 LOC130064077 LOC130064078 LOC130064079 LOC130064080 LOC130064081 LOC130064082 LOC130064083 LOC130064084 LOC130064085 LOC130064086 LOC130064087 LOC130064088 LOC130064089 LOC130064090 LOC130064091 LOC130064092 LOC130064093 LOC130064094 LOC130064095 LOC130064096 LOC130064097 LOC130064098 LOC130064099 LOC130064100 LOC130064101 LOC130064102 LOC130064103 LOC130064104 LOC130064105 LOC130064106 LOC130064107 LOC130064108 LOC130064109 LOC130064110 LOC130064111 LOC130064112
Associated Variants
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3
Source Database
ClinVar
Description
GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3 AND See cases
ClinVar Allele ID
157273
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-12-22
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000136696
Observed Origin Sample
not provided
Drugs