Annotation Detail

Information
Associated Genes
ADGRE5 DNAJB1 CYP4F3 RAB8A NDUFB7 NOTCH3 PKN1 PTGER1 SLC1A6 TPM4 CYP4F2 AP1M1 F2RL3 MED26 TECR DDX39A AKAP8 KLF2 CHERP GIPC1 ILVBL CYP4F8 ADGRL1 SIN3B BRD4 CASP14 FAM32A OR7A17 OR10H3 OR10H2 OR10H1 OR7C2 OR7A5 OR7C1 AKAP8L CPAMD8 ADGRE2 CYP4F11 EPS15L1 WIZ RASAL3 CYP4F12 TMEM38A SMIM7 EPHX3 SLC35E1 C19orf44 ZNF333 ADGRE3 HSH2D SYDE1 PGLYRP2 CIB3 CALR3 OR1I1 TEKTL1 CYP4F22 LINC00661 OR10H4 LINC00905 OR10H5 NWD1 CLEC17A OR7A10 UCA1 MIR639 MIR1470 ADGRL1-AS1 LINC01842 MIR6795 LINC01841 UCA1-AS1 LINC01855 SNORA104 LOC112543461 LOC112543462 LOC113939968 LOC116276506 ILVBL-AS1 KLF2-DT LOC121627856 LOC121627857 LOC121627858 LOC121627859 LOC121852982 LOC125371484 LOC125371486 LOC125371487 LOC125371488 LOC126862867 LOC126862868 LOC126862869 LOC126862870 LOC126862871 LOC126862872 LOC126862873 LOC126862874 LOC128854698 LOC129391072 LOC129391073 LOC129391074 LOC129391075 LOC129391076 LOC130063769 LOC130063770 LOC130063771 LOC130063772 LOC130063773 LOC130063774 LOC130063775 LOC130063776 LOC130063777 LOC130063778 LOC130063779 LOC130063780 LOC130063781 LOC130063782 LOC130063783 LOC130063784 LOC130063785 LOC130063786 LOC130063787 LOC130063788 LOC130063789 LOC130063790 LOC130063791 LOC130063792 LOC130063793 LOC130063794 LOC130063795 LOC130063796 LOC130063797 LOC130063798 LOC130063799 LOC130063800 LOC130063801 LOC130063802 LOC130063803 LOC130063804 LOC130063805 LOC130063806 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
Associated Variants
GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1
GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1
Source Database
ClinVar
Description
GRCh38/hg38 19p13.12-13.11(chr19:14154962-16914313)x1 AND See cases
ClinVar Allele ID
154516
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-10-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000134176
Observed Origin Sample
de novo
Drugs