Annotation Detail
Information
- Associated Genes
- AMT APEH RHOA SLC25A20 CAMP CDC25A CISH CCR1 CCR3 CCR5 COL7A1 DAG1 DOCK3 CELSR3 GNAI2 GNAT1 XCR1 GPX1 HYAL1 IMPDH2 LAMB2 LTF MAP4 MST1 MST1R MYL3 PFKFB4 PLXNB1 PRKAR2A PTH1R QARS1 SEMA3F SMARCC1 TCTA CRIPTO UBA7 USP4 UQCRC1 IFRD2 MAPKAPK3 SEMA3B HYAL3 HYAL2 BSN CCRL2 CACNA2D2 IP6K1 RBM6 RBM5 NME6 TRAIP ARIH2 NPRL2 CXCR6 CSPG5 CCR9 USP19 SLC38A3 CYB561D2 TMEM115 WDR6 RASSF1 TREX1 TUSC2 DHX30 SCAP NBEAL2 KLHL18 NAA80 NDUFAF3 PTPN23 SETD2 PRSS50 GMPPB C3orf18 SHISA5 ZMYND10 TMA7 ZNF589 HEMK1 IP6K2 NCKIPSD LZTFL1 P4HTM ELP6 QRICH1 DALRD3 RNF123 KIF9 CCDC71 SLC26A6 CAMKV LRRC2 FYCO1 CCDC51 RTP3 LRRC2-AS1 ATRIP NICN1 MON1A UCN2 LSMEM2 CCDC12 KLHDC8B ALS2CL TMIE FBXW12 KIF9-AS1 IHO1 C3orf62 AMIGO3 CDHR4 INKA1 MIR191 TMEM89 MIR425 SPINK8 ARIH2OS C3orf84 CCR2 SEMA3F-AS1 FAM240A BSN-DT MIR1226 MIR2115 MIR711 MIR4271 PRKAR2A-AS1 MIR4793 MIR4787 MIR4443 RBM5-AS1 MIR5193 SEMA3B-AS1 LOC101928965 RASSF1-AS1 MIR5787 MIR6823 MIR6824 MIR6872 MIR6890 CCR5AS LINC02585 LINC02009 SNORA94 LINC02019 SNORD13J SNORD146 LOC110121200 LOC111591507 ATRIP-TREX1 LOC112935943 LOC112935944 LOC112935945 LOC112935946 LOC115995510 LOC119086083 PTPN23-DT LOC121009664 LOC121009665 LOC121009666 LOC121009667 LOC121009668 LOC121009669 LOC121009670 LOC121009671 LOC121725144 LOC122889078 LOC122889079 LOC122889080 LOC122889081 LOC122889082 LOC122889083 LOC122889084 LOC122889085 LOC122889086 LOC122889087 LOC122889088 LOC126806671 LOC126806672 LOC126806673 LOC126806674 LOC126806675 LOC126806676 LOC127898564 LOC129389065 LOC129389066 LOC129389067 LOC129389068 LOC129389069 LOC129389070 LOC129389071 LOC129389072 LOC129389073 LOC129389074 LOC129389075 LOC129389076 LOC129389077 LOC129936634 LOC129936635 LOC129936636 LOC129936637 LOC129936638 LOC129936639 LOC129936640 LOC129936641 LOC129936642 LOC129936643 LOC129936644 LOC129936645 LOC129936646 LOC129936647 LOC129936648 LOC129936649 LOC129936650 LOC129936651 LOC129936652 LOC129936653 LOC129936654 LOC129936655 LOC129936656 LOC129936657 LOC129936658 LOC129936659 LOC129936660 LOC129936661 LOC129936662 LOC129936663 LOC129936664 LOC129936665 LOC129936666 LOC129936667 LOC129936668 LOC129936669 LOC129936670 LOC129936671 LOC129936672 LOC129936673 LOC129936674 LOC129936675 LOC129936676 LOC129936677 LOC129936678 LOC129936679 LOC129936680 LOC129936681 LOC129936682 LOC129936683 LOC129936684 LOC129936685 LOC129936686 LOC129936687 LOC129936688 LOC129936689 LOC129936690 LOC129936691 LOC129936692 LOC129936693 LOC129936694 LOC129936695 LOC129936696 LOC129936697 LOC129936698 LOC129936699 LOC129936700 LOC129936701 LOC129936702 LOC129936703 LOC129936704 LOC129936705 LOC129936706 LOC129936707 LOC129936708 LOC129936709 LOC129936710 LOC129936711 LOC129936712 LOC129936713 LOC129936714 LOC129936715 LOC129936716 LOC129936717 LOC129936718 LOC129936719 LOC129936720 LOC129936721 LOC129936722 LOC129936723 LOC129936724 LOC129936725 LOC129936726 LOC129936727 LOC129936728 LOC129936729 LOC129936730 LOC129936731 LOC129936732 LOC129936733 LOC129936734 LOC129936735 LOC129936736 LOC129936737 LOC129936738 LOC129936739 LOC129936740 LOC129936741 LOC129936742 LOC129936743 LOC129936744 LOC129936745 LOC129936746 LOC129936747 LOC129936748 LOC129936749 LOC129936750 LOC129936751 LOC129936752 LOC129936753 LOC129936754 LOC129936755 LOC129936756 LOC129936757 LOC129936758 LOC129936759 LOC129936760 LOC129936761 LOC129936762 LOC129936763 LOC129936764 LOC129936765 LOC129936766 LOC129936767 LOC129936768 LOC129936769 LOC129936770 LOC129936771 LOC129936772 LOC129936773 LOC129936774 LOC129936775 LOC129936776 LOC129936777 LOC129936778 LOC129936779 LOC129936780 LOC129936781 LOC129936782 LOC129936783 LOC129936784 LOC129936785 LOC129936786 LOC129936787 LOC129936788 LOC129936789 LOC129936790 LOC129936791 LOC129936792 LOC129936793 LOC129936794 LOC129936795 LOC129936796 LOC129936797 LOC129936798 LOC129936799 LOC129936800 LOC129936801 LOC129936802 LOC129936803 LOC129936804 LOC129936805 LOC129936806 LOC129936807 LOC129936808 LOC129936809 LOC129936810 LOC129936811 LOC132088966 LOC132088967 LOC132088968 LOC132088969 LOC132088970
- Associated Variants
-
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4
GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 - Source Database
- ClinVar
- Description
- GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4 AND See cases
- ClinVar Allele ID
- 153919
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-09-23
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000133650
- Observed Origin Sample
- not provided
Drugs