Annotation Detail

Information
Associated Genes
ACAN ALDH1A3 ANPEP BLM BNC1 CHD2 FES IDH2 IGF1R ISG20 MAN2A2 MEF2A MFGE8 NMB NTRK3 FURIN PCSK6 PDE8A PLIN1 POLG RLBP1 SH3GL3 SNRPA1 NR2F2 ST8SIA2 PEX11A IQGAP1 PRC1 SLC28A1 HOMER2 ZNF592 SV2B AP3S2 SEMA4B CIB1 ABHD2 AKAP13 CHSY1 SYNM SEC11A VPS33B MRPL46 SLCO3A1 HDGFL3 NGRN RHCG BTBD1 TM6SF1 ZSCAN2 DET1 LINS1 FANCI MCTP2 SELENOS MESP1 UNC45A RGMA WDR93 ADAMTSL3 ALPK3 KLHL25 AEN CRTC3 TTC23 MRPS11 LRRK1 TM2D3 RAMAC WDR73 TICRR RCCD1 ARRDC4 LINC00923 C15orf40 TARS3 LRRC28 AGBL1 ASB7 LYSMD4 PGPEP1L LINC00924 C15orf32 HAPLN3 MESP2 SPATA8 LINC00052 ADAMTS17 CERS3 MIR9-3HG LINC01579 NTRK3-AS1 LINC00928 ZNF774 ARPIN KIF7 ZNF710 HDDC3 SPATA41 GDPGP1 OR4F6 FAM174B LETR1 MIR7-2 MIR9-3 TTLL13 GOLGA6L4 NR2F2-AS1 AGBL1-AS1 LINC00930 TRR-TCG1-1 MIR1276 MIR1179 MIR1469 PIRC76 MIR3174 MIR3175 LINC00933 PRC1-AS1 CHASERR LOC100507472 ARPIN-AP3S2 MIR3529 MIR4515 MIR4714 SPATA8-AS1 MIR5009 MIR5094 MIR548AP CRTC3-AS1 VPS33B-DT CRAT37 LINC01581 LINC01580 LINC02207 LINC02254 LOC101927310 LINC01582 LINC02348 ALDH1A3-AS1 LINC02883 LINC01584 LINC01586 LINC01585 MIR7706 MIR6766 CERS3-AS1 LOC102723335 LOC102724452 LOC102724465 CARMAL LOC103171574 IRAIN LUNAR1 LOC104613533 GCAWKR LOC105369212 LOC105370947 LOC105370954 IDH2-DT LOC105370973 LOC105370980 LOC105370987 LOC105370993 LOC105370997 LOC105371006 LINC02251 LINC02351 SYNM-AS1 LOC105371017 LINC02244 PCSK6-AS1 LOC105371031 LINC02253 LOC108251791 ZNF710-AS1 LOC110121345 LOC110121430 LOC110121464 LOC111413032 LOC111718493 LOC111822949 LOC112272574 LOC112272622 LOC112272623 LOC112296173 LOC112296174 LOC112296175 LOC112296176 LOC112296177 LOC112296178 MIR11181 LOC113939942 LOC114827858 LOC116268474 LOC116268475 LOC116268476 LOC116268477 LOC116268478 LOC116268479 RCCD1-AS1 LOC117204000 LOC117204001 POLG-DT SNRPA1-DT LOC121530600 LOC121530601 LOC121530602 LOC121530603 LOC121530604 LOC121530605 LOC121847961 LOC121847962 LOC121847963 LOC121847964 LOC121847965 LOC121847966 LOC125138299 LOC125138300 LOC125138301 LOC125138302 LOC125138303 LOC125138305 LOC125138306 LOC125138307 LOC125138308 LOC125138309 LOC125146351 LOC125146353 LOC125146354 LOC125146355 LOC125146356 LOC125146357 LOC125146359 LOC125146360 LOC125146361 LOC125146362 LOC125146363 LOC125146364 LOC125146365 LOC125146367 LOC125146368 LOC125146369 LOC125146370 POLGARF LOC126862199 LOC126862200 LOC126862201 LOC126862202 LOC126862203 LOC126862204 LOC126862205 LOC126862206 LOC126862207 LOC126862208 LOC126862209 LOC126862210 LOC126862211 LOC126862212 LOC126862213 LOC126862214 LOC126862215 LOC126862216 LOC126862217 LOC126862218 LOC126862219 LOC126862220 LOC126862221 LOC126862222 LOC126862223 LOC126862224 LOC126862225 LOC126862226 LOC126862227 LOC126862228 LOC126862229 LOC126862230 LOC126862231 LOC126862232 LOC126862233 LOC126862234 LOC126862235 LOC126862236 LOC126862237 LOC126862238 LOC126862239 LOC126862240 LOC126862241 LOC126862242 LOC126862243 LOC126862244 LOC126862245 LOC126862246 LOC126862247 LOC126862248 LOC126862249 LOC126862250 LOC126862251 LOC126862252 LOC126862253 LOC126862254 LOC126862255 LOC126862256 LOC126862257 LOC126862258 TTC23-AS1 LOC129390728 LOC129390729 LOC129390730 LOC129390731 LOC129390732 LOC129390733 LOC129390734 LOC129390735 LOC129390736 LOC129390737 LOC129390738 LOC129390739 LOC129390740 LOC129390741 LOC129390742 LOC129390743 LOC129390744 LOC129390745 LOC129390746 LOC129390747 LOC129390748 LOC129390749 LOC129390750 LOC130057780 LOC130057781 LOC130057782 LOC130057783 LOC130057784 LOC130057785 LOC130057786 LOC130057787 LOC130057788 LOC130057789 LOC130057790 LOC130057791 LOC130057792 LOC130057793 LOC130057794 LOC130057795 LOC130057796 LOC130057797 LOC130057798 LOC130057799 LOC130057800 LOC130057801 LOC130057802 LOC130057803 LOC130057804 LOC130057805 LOC130057806 LOC130057807 LOC130057808 LOC130057809 LOC130057810 LOC130057811 LOC130057812 LOC130057813 LOC130057814 LOC130057815 LOC130057816 LOC130057817 LOC130057818 LOC130057819 LOC130057820 LOC130057821 LOC130057822 LOC130057823 LOC130057824 LOC130057825 LOC130057826 LOC130057827 LOC130057828 LOC130057829 LOC130057830 LOC130057831 LOC130057832 LOC130057833 LOC130057834 LOC130057835 LOC130057836 LOC130057837 LOC130057838 LOC130057839 LOC130057840 LOC130057841 LOC130057842 LOC130057843 LOC130057844 LOC130057845 LOC130057846 LOC130057847 LOC130057848 LOC130057849 LOC130057850 LOC130057851 LOC130057852 LOC130057853 LOC130057854 LOC130057855 LOC130057856 LOC130057857 LOC130057858 LOC130057859 LOC130057860 LOC130057861 LOC130057862 LOC130057863 LOC130057864 LOC130057865 LOC130057866 LOC130057867 LOC130057868 LOC130057869 LOC130057870 LOC130057871 LOC130057872 LOC130057873 LOC130057874 LOC130057875 LOC130057876 LOC130057877 LOC130057878 LOC130057879 LOC130057880 LOC130057881 LOC130057882 LOC130057883 LOC130057884 LOC130057885 LOC130057886 LOC130057887 LOC130057888 LOC130057889 LOC130057890 LOC130057891 LOC130057892 LOC130057893 LOC130057894 LOC130057895 LOC130057896 LOC130057897 LOC130057898 LOC130057899 LOC130057900 LOC130057901 LOC130057902 LOC130057903 LOC130057904 LOC130057905 LOC130057906 LOC130057907 LOC130057908 LOC130057909 LOC130057910 LOC130057911 LOC130057912 LOC130057913 LOC130057914 LOC130057915 LOC130057916 LOC130057917 LOC130057918 LOC130057919 LOC130057920 LOC130057921 LOC130057922 LOC130057923 LOC130057924 LOC130057925 LOC130057926 LOC130057927 LOC130057928 LOC130057929 LOC130057930 LOC130057931 LOC130057932 LOC130057933 LOC130057934 LOC130057935 LOC130057936 LOC130057937 LOC130057938 LOC130057939 LOC130057940 LOC130057941 LOC130057942 LOC130057943 LOC130057944 LOC130057945 LOC130057946 LOC130057947 LOC130057948 LOC130057949 LOC130057950 LOC130057951 LOC130057952 LOC130057953 LOC130057954 LOC130057955 LOC130057956 LOC130057957 LOC130057958 LOC130057959 LOC130057960 LOC130057961 LOC130057962 LOC130057963 LOC130057964 LOC130057965 LOC130057966 LOC130057967 LOC130057968 LOC130057969 LOC130057970 LOC130057971 LOC130057972 LOC130057973 LOC130057974 LOC130057975 LOC130057976 LOC130057977 LOC130057978 LOC130057979 LOC130057980 LOC130057981 LOC130057982 LOC130057983 LOC130057984 LOC130057985 LOC130057986 LOC130057987 LOC130057988 LOC130057989 LOC130057990 LOC130057991 LOC130057992 LOC130057993 LOC130057994 LOC130057995 LOC130057996 LOC130057997 LOC130057998 LOC130057999 LOC130058000 LOC130058001 LOC130058002 LOC130058003 LOC130058004 LOC130058005 LOC130058006 LOC130058007 LOC130058008 LOC130058009 LOC130058010 LOC130058011 LOC130058012 LOC130058013 LOC130058014 LOC130058015 LOC130058016 LOC130058017 LOC130058018 LOC130058019 LOC130058020 LOC130058021 LOC130058022 LOC130058023 LOC130058024 LOC130058025 LOC130058026 LOC130058027 LOC130058028 LOC130058029 LOC130058030 LOC130058031 LOC130058032 LOC130058033 LOC130058034 LOC130058035 LOC130058036 LOC130058037 LOC130058038 LOC130058039 LOC130058040 LOC130058041 LOC130058042 LOC130058043 LOC130058044 LOC130058045 LOC130058046 LOC130058047 LOC130058048 LOC130058049 LOC130058050 LOC130058051 LOC130058052 LOC130058053 LOC130058054 LOC130058055 LOC130058056 LOC130058057 LOC130058058 LOC130058059 LOC130058060 LOC130058061 LOC130058062 LOC130058063 LOC130058064 LOC130058065 LOC130058066 LOC130058067 LOC130058068 LOC130058069 LOC130058070 LOC130058071 LOC130058072 LOC130058073 LOC130058074 LOC130058075 LOC130058076 LOC130058077 LOC130058078 LOC130058079 LOC130058080 LOC130058081 LOC130058082 LOC132090338 LOC132090339 LOC132090340 LOC132090341 LOC132090342 LOC132090343 LOC132090344 LOC132090345 LOC132090346 LOC132090347 LOC132090348 LOC132090349 LOC132090350 LOC132090351 LOC132090352 LOC132090353 LOC132090354 LOC132090355 LOC132090356 LOC132090357 LOC132090358 LOC132090359 LOC132090360 LOC132090361 LOC132090362 LOC132090363 LOC132090364 LOC132090365 LOC132090366 LOC132090367 LOC132090368 LOC132090369 LOC132090884 LOC132090885 LOC132090886
Associated Variants
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3
Source Database
ClinVar
Description
GRCh38/hg38 15q25.2-26.3(chr15:82859676-101810992)x3 AND See cases
ClinVar Allele ID
157442
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2010-10-14
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000136849
Observed Origin Sample
not provided
Drugs