Annotation Detail

Information
Associated Genes
ACTA1 ACTN2 PARP1 ADSS2 AGT ARF1 CHML LYST CHRM3 EPHX1 FH GALNT2 GNG4 GUK1 H3-3A HNRNPU ITPKB KCNK1 LBR LGALS8 MTR NID1 NVL PSEN2 RAB4A RGS7 RYR2 SRP9 TARBP1 TBCE LEFTY2 GPR137B TSNAX WNT9A ZNF124 H3-4 GNPAT CDC42BPA DEGS1 KMO EXO1 GGPS1 TMEM63A TOMM20 URB2 CEP170 AKT3 ZBTB18 LEFTY1 CAPN9 SDCCAG8 COG2 RBM34 FBXO28 ABCB10 OPN3 TRIM58 AHCTF1 OR1C1 OR2M4 OR2L2 OR2T1 TAF5L DISC2 DISC1 CNIH4 PYCR2 DESI2 SCCPDH TRIM17 ARID4B EGLN1 MAP10 KIF26B HEATR1 ZNF692 ENAH NUP133 ERO1B FMN2 COQ8A ZNF695 GJC2 SIPA1L2 ZP4 RHOU TFB2M GREM2 ACBD3 SMYD3 ARV1 JMJD4 C1orf35 TTC13 PGBD5 ZNF669 ZNF672 PCNX2 WDR26 SH3BP5L OR9H1P OR2T7 OR2L5 OR2G3 OR2G2 OR2C3 TRIM11 MIXL1 SPRTN OBSCN NTPCR EFCAB2 MAP3K21 ZNF496 C1orf198 WNT3A H2AC25 ZNF670 NLRP3 COX20 SNAP47 CCSAP OR2M5 OR2M3 OR2T12 OR14C36 OR2T34 OR2T10 OR2T4 OR2T11 DNAH14 OR2AJ1 OR14L1 OR2B11 WDR64 C1orf131 EDARADD MRPL55 H2BC26 SLC35F3 B3GALNT2 GCSAML GCSAML-AS1 CNIH3 LINC01341 EXOC8 TRIM67-AS1 RNF187 SDE2 CNST PLD5 SPMIP3 IBA57 OR2T6 LINC01743 CATSPERE PGBD2 OR2L13 OR14A16 LIN9 VN1R5 ZNF678 PRSS38 LINC02774 LINC01139 OR6F1 OR14K1 OR2W3 OR2T8 OR2T3 OR2T29 IRF2BP2 STUM FAM89A COA6 LINC02897 OR14A2 OR11L1 OR2L8 OR2AK2 OR2L3 OR2M2 OR2T33 OR2M7 OR2G6 FLJ39095 OR2T2 OR2T5 OR14I1 OR2T27 OR2T35 TRIM67 MAP1LC3C LOC440742 BECN2 OR13G1 OBSCN-AS1 IBA57-DT MT1HL1 LYPD8 TMEM78 SNORA14B LINC01347 LINC01348 BTNL10P LINC02961 RNA5S1 RNA5S2 RNA5S3 RNA5S4 RNA5S5 RNA5S6 RNA5S7 RNA5S8 RNA5S9 RNA5S10 RNA5S11 RNA5S12 RNA5S13 RNA5S14 RNA5S15 RNA5S16 RNA5S17 TRL-CAA4-1 TRE-CTC2-1 LINC00582 LGALS8-AS1 MIR1182 MIR1537 LINC00184 TSNAX-DISC1 MIR320B2 MIR3123 MIR3124 MIR3620 MIR3916 ITPKB-IT1 LINC02809 LINC01354 LINC01132 CHRM3-AS2 LOC100506929 ZNF670-ZNF695 MIR4428 MIR4753 MIR4666A MIR4677 MIR4671 MIR4427 MIR4742 MIR5008 CHRM3-AS1 AKT3-IT1 LOC101927143 LOC101927164 NUP133-DT LINC01682 LINC01736 LINC01737 LOC101927604 LINC01744 COA6-AS1 LOC101927787 LNCATV LOC101928068 SMYD3-AS1 MIR6742 MIR6741 CNIH3-AS2 SLC35F3-AS1 LOC102724446 DISC1-IT1 CNIH3-AS1 LINC02765 LINC01703 LINC02815 RAB4A-AS1 LINC01745 LOC105373209 LINC02768 LOC105373289 SNORA100 LOC107546745 LOC107546746 LOC107546747 LOC107546778 LOC107546780 LOC107548103 ZNF496-DT ACBD3-AS1 LOC107985355 LINC01641 LOC108004528 LOC110120698 LOC110121205 LOC110121251 LOC110121263 LOC110121264 LOC110121265 LOC110121266 LOC110121307 KIF26B-AS1 LOC111365197 LOC111365208 LOC111828504 LINC02814 LOC112577543 LOC112577544 LOC112577545 LOC112577546 LOC112577547 LOC112577548 LOC112577552 LOC112577554 LOC112577555 LOC112577556 LOC112577557 LOC112577558 LOC112577559 LOC112577560 LOC112577561 LOC112577565 LOC112577566 LOC112577567 LOC112577568 LOC112577569 LOC113939987 LOC115804247 LOC115804248 LOC115804249 LOC115804250 LOC115804251 LOC115804252 LOC115804253 LOC115804254 LOC115804255 LOC115804256 H3-3A-DT LOC120807606 LOC120908911 LOC120908912 LOC120908913 LOC120908914 LOC120908915 LOC120908916 LOC120908917 LOC120908918 LOC120908919 LOC120908920 LOC120908921 LOC120908922 LOC120908923 LOC120947224 LOC121725075 LOC121725076 LOC122152307 LOC122152308 LOC122152309 LOC122152310 LOC122152311 LOC122152312 LOC122152313 LOC122152314 LOC122152315 LOC122152316 LOC122152317 LOC122152318 LOC122152319 LOC122152320 LOC122152321 LOC122152322 LOC122152332 LOC122152333 LOC122152334 LOC122152335 LOC122152336 LOC122152337 LOC122152338 LOC122152339 LOC122152340 LOC122152341 LOC122152342 LOC122152343 LOC122152344 LOC122152345 LOC122152346 LOC122152347 LOC122152348 LOC122152349 LOC122152350 LOC122152351 LOC122152352 LOC122152353 LOC122152354 LOC122152355 LOC122152356 LOC122152357 LOC122152358 LOC122152359 LOC122152360 LOC122152361 LOC122152362 ZNF692-DT C1orf202 LOC122526782 LINC02971 LOC126264117 LOC126806030 LOC126806031 LOC126806032 LOC126806033 LOC126806034 LOC126806035 LOC126806036 LOC126806037 LOC126806038 LOC126806039 LOC126806040 LOC126806041 LOC126806042 LOC126806043 LOC126806044 LOC126806045 LOC126806046 LOC126806047 LOC126806048 LOC126806049 LOC126806050 LOC126806051 LOC126806052 LOC126806053 LOC126806054 LOC126806055 LOC126806056 LOC126806057 LOC126806058 LOC126806059 LOC126806060 LOC126806061 LOC126806062 LOC126806063 LOC126806064 LOC126806065 LOC126806066 LOC126806067 LOC126806068 LOC126806069 LOC126806070 LOC126806071 LOC126806072 LOC126806073 LOC126806074 LOC126806075 LOC126806076 LOC126806077 LOC126806078 LOC126806079 LOC126806080 LOC126806081 LOC126806082 LOC126806083 LOC126806084 LOC126806085 LOC126806086 LOC126806087 LOC126806088 LOC126806089 LOC126806090 LOC128598893 LOC128598894 LOC128635606 LOC128635607 LOC128772240 LOC128772241 LOC128772242 LOC128772243 LOC128772244 LOC128772245 LOC129388757 LOC129388758 LOC129388759 LOC129388760 LOC129388761 LOC129388762 LOC129388763 LOC129388764 LOC129388765 LOC129388766 LOC129388767 LOC129388768 LOC129388769 LOC129388770 LOC129388771 LOC129388772 LOC129388773 LOC129388774 LOC129388775 LOC129388776 LOC129388777 LOC129388778 LOC129388779 LOC129388780 LOC129388781 LOC129388782 LOC129388783 LOC129388784 LOC129388785 LOC129388786 LOC129388787 LOC129388788 LOC129388789 LOC129388790 LOC129388791 LOC129388792 LOC129388793 LOC129388794 LOC129388795 LOC129388796 LOC129388797 LOC129388798 LOC129388799 LOC129388800 LOC129388801 LOC129388802 LOC129388803 LOC129388804 LOC129388805 LOC129388806 LOC129388807 LOC129388808 LOC129388809 LOC129388810 LOC129388811 LOC129388812 LOC129388813 LOC129869688 LOC129929020 LOC129932574 LOC129932575 LOC129932576 LOC129932577 LOC129932578 LOC129932579 LOC129932580 LOC129932581 LOC129932582 LOC129932583 LOC129932584 LOC129932585 LOC129932586 LOC129932587 LOC129932588 LOC129932589 LOC129932590 LOC129932591 LOC129932592 LOC129932593 LOC129932594 LOC129932595 LOC129932596 LOC129932597 LOC129932598 LOC129932599 LOC129932600 LOC129932601 LOC129932602 LOC129932603 LOC129932604 LOC129932605 LOC129932606 LOC129932607 LOC129932608 LOC129932609 LOC129932610 LOC129932611 LOC129932612 LOC129932613 LOC129932614 LOC129932615 LOC129932616 LOC129932617 LOC129932618 LOC129932619 LOC129932620 LOC129932621 LOC129932622 LOC129932623 LOC129932624 LOC129932625 LOC129932626 LOC129932627 LOC129932628 LOC129932629 LOC129932630 LOC129932631 LOC129932632 LOC129932633 LOC129932634 LOC129932635 LOC129932636 LOC129932637 LOC129932638 LOC129932639 LOC129932640 LOC129932641 LOC129932642 LOC129932643 LOC129932644 LOC129932645 LOC129932646 LOC129932647 LOC129932648 LOC129932649 LOC129932650 LOC129932651 LOC129932652 LOC129932653 LOC129932654 LOC129932655 LOC129932656 LOC129932657 LOC129932658 LOC129932659 LOC129932660 LOC129932661 LOC129932662 LOC129932663 LOC129932664 LOC129932665 LOC129932666 LOC129932667 LOC129932668 LOC129932669 LOC129932670 LOC129932671 LOC129932672 LOC129932673 LOC129932674 LOC129932675 LOC129932676 LOC129932677 LOC129932678 LOC129932679 LOC129932680 LOC129932681 LOC129932682 LOC129932683 LOC129932684 LOC129932685 LOC129932686 LOC129932687 LOC129932688 LOC129932689 LOC129932690 LOC129932691 LOC129932692 LOC129932693 LOC129932694 LOC129932695 LOC129932696 LOC129932697 LOC129932698 LOC129932699 LOC129932700 LOC129932701 LOC129932702 LOC129932703 LOC129932704 LOC129932705 LOC129932706 LOC129932707 LOC129932708 LOC129932709 LOC129932710 LOC129932711 LOC129932712 LOC129932713 LOC129932714 LOC129932715 LOC129932716 LOC129932717 LOC129932718 LOC129932719 LOC129932720 LOC129932721 LOC129932722 LOC129932723 LOC129932724 LOC129932725 LOC129932726 LOC129932727 LOC129932728 LOC129932729 LOC129932730 LOC129932731 LOC129932732 LOC129932733 LOC129932734 LOC129932735 LOC129932736 LOC129932737 LOC129932738 LOC129932739 LOC129932740 LOC129932741 LOC129932742 LOC129932743 LOC129932744 LOC129932745 LOC129932746 LOC129932747 LOC129932748 LOC129932749 LOC129932750 LOC129932751 LOC129932752 LOC129932753 LOC129932754 LOC129932755 LOC129932756 LOC129932757 LOC129932758 LOC129932759 LOC129932760 LOC129932761 LOC129932762 LOC129932763 LOC129932764 LOC129932765 LOC129932766 LOC129932767 LOC129932768 LOC129932769 LOC129932770 LOC129932771 LOC129932772 LOC129932773 LOC129932774 LOC129932775 LOC129932776 LOC129932777 LOC129932778 LOC129932779 LOC129932780 LOC129932781 LOC129932782 LOC129932783 LOC129932784 LOC129932785 LOC129932786 LOC129932787 LOC129932788 LOC129932789 LOC129932790 LOC129932791 LOC129932792 LOC129932793 LOC129932794 LOC129932795 LOC129932796 LOC129932797 LOC129932798 LOC129932799 LOC129932800 LOC129932801 LOC129932802 LOC129932803 LOC129932804 LOC129932805 LOC129932806 LOC129932807 LOC129932808 LOC129932809 LOC129932810 LOC129932811 LOC129932812 LOC129932813 LOC129932814 LOC129932815 LOC129932816 LOC129932817 LOC129932818 LOC129932819 LOC129932820 LOC129932821 LOC129932822 LOC129932823 LOC129932824 LOC129932825 LOC129932826 LOC129932827 LOC129932828 LOC129932829 LOC129932830 LOC129932831 LOC129932832 LOC129932833 LOC129932834 LOC129932835 LOC129932836 LOC129932837 LOC129932838 LOC129932839 LOC129932840 LOC129932841 LOC129932842 LOC129932843 LOC129932844 LOC129932845 LOC129932846 LOC129932847 LOC129932848 LOC129932849 LOC129932850 LOC129932851 LOC129932852 LOC129932853 LOC129932854 LOC129932855 LOC129932856 LOC129932857 LOC129932858 LOC129932859 LOC129932860 LOC129932861 LOC129932862 LOC129932863 LOC129932864 LOC129932865 LOC129932866 LOC129932867 LOC129932868 LOC129932869 LOC129932870 LOC129932871 LOC129932872 LOC129932873 LOC129932874 LOC129932875 LOC129932876 LOC129932877 LOC129932878 LOC129932879 LOC129932880 LOC129932881 LOC129932882 LOC129932883 LOC129932884 LOC129932885 LOC129932886 LOC129932887 LOC129932888 LOC129932889 LOC129932890 LOC129932891 LOC129932892 LOC129932893 LOC129932894 LOC129932895 LOC129932896 LOC129932897 LOC129932898 LOC129932899 LOC129932900 LOC129932901 LOC129932902 LOC129932903 LOC129932904 LOC129932905 LOC129932906 LOC129932907 LOC129932908 LOC129932909 LOC129932910 LOC129932911 LOC129932912 LOC129932913 LOC129932914 LOC129932915 LOC129932916 LOC129932917 LOC129932918 LOC129932919 LOC129932920 LOC129932921 LOC129932922 LOC129932923 LOC129932924 LOC129932925 LOC129932926 LOC129932927 LOC129932928 LOC129932929 LOC129932930 LOC129932931 LOC129932932 LOC129932933 LOC129932934 LOC129932935 LOC129932936 LOC129932937 LOC129932938 LOC129932939 LOC129932940 LOC129932941 LOC129932942 LOC129932943 LOC129932944 LOC129932945 LOC129932946 LOC129932947 LOC129932948 LOC129932949 LOC129932950 LOC129932951 LOC129932952 LOC129932953 LOC129932954 LOC129932955 LOC129932956 LOC129932957 LOC129932958 LOC129932959 LOC129932960 LOC129932961 LOC129932962 LOC129932963 LOC129932964 LOC129932965 LOC129932966 LOC129932967 LOC129932968 LOC129932969 LOC129932970 LOC129932971 LINC03108 LOC132088667 LOC132088670 LOC132088671 LOC132088673 LOC132088674 LOC132088676 LOC132088677 LOC132088678 LOC132088679 LOC132088680 LOC132088681 LOC132088683 LOC132088684 LOC132088685 LOC132088686 LOC132090677
Associated Variants
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3
Source Database
ClinVar
Description
GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3 AND See cases
ClinVar Allele ID
158452
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-09-16
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000137769
Observed Origin Sample
not provided
Drugs