Annotation Detail

Information
Associated Genes
ACRV1 ARCN1 FXYD2 CXCR5 CBL CD3D CD3E CD3G CHEK1 DDX6 DPAGT1 SLC37A4 GRIK4 H2AX HMBS HSPA8 IL10RA STT3A VWA5A MCAM KMT2A NRGN NECTIN1 RPS25 SC5D SCN2B SCN4B ST3GAL4 SORL1 SRPRA TECTA THY1 UPK2 ZNF202 USP2 UBE4A EI24 FEZ1 C2CD2L MPZL2 HYOU1 ATP5MG TREH CEP164 PHLDB1 ARHGEF12 VSIG2 TRIM29 POU2F3 HINFP OR8B8 OR8G1 OR10D3 OR8B2 DCPS DDX25 CDON TRAPPC4 SPA17 FXYD6 SIAE ROBO4 FOXRED1 SCN3B VPS11 CRTAM TMPRSS4 IFT46 DSCAML1 GRAMD1B PKNOX2 ABCG4 ROBO3 RNF26 OR10G6 FAM118B NLRX1 MSANTD2 CLMP NHERF4 JHY CCDC15 PUS3 MFRP TMPRSS13 KIRREL3 TMEM25 RPUSD4 TBRG1 UBASH3B SNORD14C SNORD14D SNORD14E ESAM TIRAP C1QTNF5 PANX3 JAML TTC36 PATE1 MPZL3 HYLS1 TMEM218 SLC37A2 OR8B12 OR8G5 OR10G8 OR10G9 OR10S1 OR6T1 OR4D5 TBCEL TLCD5 HEPACAM OAF BCL9L FOXR1 DRC12 OR8D1 OR8D2 OR8B4 KIRREL3-AS3 CENATAC TMEM225 OR8D4 VSIG10L2 OR8G3P BSX OR6X1 OR6M1 OR10G4 OR10G7 OR8B3 OR8A1 MIR100HG PATE2 PATE4 GSEC LOC403312 MIRLET7A2 MIR100 MIR125B1 BLID HEPN1 LOC649133 LOC100131626 PATE3 TRK-TTT2-1 MIR3167 USP2-AS1 MSANTD2-AS1 SMIM35 FXYD6-FXYD2 MIR4493 MIR4492 KIRREL3-AS1 KIRREL3-AS2 TTC36-AS1 LOC101929208 LOC101929227 ESAM-AS1 LOC101929427 LOC101929473 LINC02712 MIR6756 MIR6716 NECTIN1-DT PKNOX2-DT NECTIN1-AS1 LINC02744 LOC105369532 LOC105369535 SORL1-AS1 LINC02727 PKNOX2-AS1 STT3A-AS1 TIRAP-AS1 LOC105369558 CENATAC-DT LOC107984399 FRA11B SNORD150 LOC110120944 LOC110121418 LOC110121460 LOC111365219 LOC111413012 LOC111429625 LOC111465015 LOC112042777 LOC112042778 LOC112042779 LOC112042780 LOC112042783 LOC112042784 LOC112042785 LOC112042786 LOC112061819 LOC112061820 LOC112061821 MIR10526 LOC114803469 LOC116225303 LOC116225304 LOC116225305 LOC116225306 TBCEL-TECTA LOC118567325 LOC121392944 LOC121392945 LOC121392946 LOC121392947 LOC121392948 FXYD6-AS1 LOC124625848 LOC124625849 LOC124625850 LOC124625851 LOC124625852 LOC124625853 LOC124625854 LOC124625855 LOC124625856 LOC124625857 LOC124625858 LOC124625859 LOC124625860 LOC124625861 LOC124625862 LOC124625863 LOC124625864 LOC124625865 LOC124625866 LOC124625867 LOC126861354 LOC126861355 LOC126861356 LOC126861357 LOC126861358 LOC126861359 LOC126861360 LOC126861361 LOC126861362 LOC126861363 LOC126861364 LOC126861365 LOC126861366 LOC126861367 LOC126861368 LOC126861369 LOC126861370 LOC126861371 LOC126861372 LOC126861373 LOC126861374 LOC126861375 LOC126861376 LOC126861377 LOC126861378 LOC126861379 LOC126861380 HYOU1-AS1 LOC128772364 LOC128772365 LOC128772366 LOC128772367 LOC128772368 LOC128772369 LOC128772370 LOC128772371 LOC128772372 LOC128772373 LOC129390368 LOC129390369 LOC129390370 LOC129390371 LOC129390372 LOC129390373 LOC129390374 LOC129390375 LOC130006824 LOC130006825 LOC130006826 LOC130006827 LOC130006828 LOC130006829 LOC130006830 LOC130006831 LOC130006832 LOC130006833 LOC130006834 LOC130006835 LOC130006836 LOC130006837 LOC130006838 LOC130006839 LOC130006840 LOC130006841 LOC130006842 LOC130006843 LOC130006844 LOC130006845 LOC130006846 LOC130006847 LOC130006848 LOC130006849 LOC130006850 LOC130006851 LOC130006852 LOC130006853 LOC130006854 LOC130006855 LOC130006856 LOC130006857 LOC130006858 LOC130006859 LOC130006860 LOC130006861 LOC130006862 LOC130006863 LOC130006864 LOC130006865 LOC130006866 LOC130006867 LOC130006868 LOC130006869 LOC130006870 LOC130006871 LOC130006872 LOC130006873 LOC130006874 LOC130006875 LOC130006876 LOC130006877 LOC130006878 LOC130006879 LOC130006880 LOC130006881 LOC130006882 LOC130006883 LOC130006884 LOC130006885 LOC130006886 LOC130006887 LOC130006888 LOC130006889 LOC130006890 LOC130006891 LOC130006892 LOC130006893 LOC130006894 LOC130006895 LOC130006896 LOC130006897 LOC130006898 LOC130006899 LOC130006900 LOC130006901 LOC130006902 LOC130006903 LOC130006904 LOC130006905 LOC130006906 LOC130006907 LOC130006908 LOC130006909 LOC130006910 LOC130006911 LOC130006912 LOC130006913 LOC130006914 LOC130006915 LOC130006916 LOC130006917 LOC130006918 LOC130006919 LOC130006920 LOC130006921 LOC130006922 LOC130006923 LOC130006924 LOC130006925 LOC130006926 LOC130006927 LOC130006928 LOC130006929 LOC130006930 LOC130006931 LOC130006932 LOC130006933 LOC130006934 LOC130006935 LOC130006936 LOC130006937 LOC130006938 LOC130006939 LOC130006940 LOC130006941 LOC130006942 LOC130006943 LOC130006944 LOC130006945 LOC130006946 LOC130006947 LOC130006948 LOC130006949 LOC130006950 LOC130006951 LOC130006952 LOC130006953 LOC130006954 LOC130006955 LOC130006956 LOC130006957 LOC130006958 LOC130006959 LOC130006960 LOC130006961 LOC130006962 LOC130006963 LOC130006964 LOC130006965 LOC130006966 LOC130006967 LOC130006968 LOC130006969 LOC130006970 LOC130006971 LOC130006972 LOC130006973 LOC130006974 LOC130006975 LOC130006976 LOC130006977 LOC130006978 LOC130006979 LOC130006980 LOC130006981 LOC130006982 LOC130006983 LOC130006984 LOC130006985 LOC130006986 LOC130006987 LOC130006988 LOC130006989 LOC130006990 LOC130006991 LOC130006992 LOC130006993 LOC130006994 LOC130006995 LOC130006996 LOC130006997 LOC130006998 LOC130006999 LOC130007000 LOC130007001 LOC130007002 LOC130007003 LOC130007004 LOC130007005 LOC130007006 LOC130007007 LOC130007008 LOC130007009 LOC130007010 LOC130007011 LOC130007012 LOC130007013 LOC130007014 LOC130007015 LOC130007016 LOC130007017 LOC130007018 LOC130007019 LOC130007020 LOC130007021 LOC130007022 LOC130007023 LOC130007024 LOC130007025 LOC130007026 LOC130007027 LOC130007028 LOC130007029 LOC130007030 LOC130007031 LOC130007032 LOC130007033 LOC130007034 LOC132089900 LOC132089901 LOC132089902 LOC132089903 LOC132089904 LOC132089905 LOC132089906 LOC132089907 LOC132090842 LOC132211105
Associated Variants
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3
Source Database
ClinVar
Description
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 AND See cases
ClinVar Allele ID
160273
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-07-05
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000139362
Observed Origin Sample
not provided
Drugs