Annotation Detail

Information
Associated Genes
ACRV1 APLP2 CHEK1 ETS1 FLI1 GRIK4 HSPA8 STT3A KCNJ1 KCNJ5 VWA5A NFRKB NRGN OPCML SC5D ST3GAL4 SORL1 SRPRA ST14 TECTA ZNF202 BARX2 EI24 FEZ1 ARHGAP32 ADAMTS8 IGSF9B NCAPD3 ARHGEF12 VSIG2 POU2F3 OR8B8 OR8G1 OR10D3 OR8B2 ACAD8 B3GAT1 DCPS ZBTB44 THYN1 DDX25 NTM CDON SPA17 SIAE ROBO4 FOXRED1 SCN3B CRTAM PRDM10 GRAMD1B PKNOX2 TP53AIP1 ROBO3 OR10G6 FAM118B MSANTD2 CLMP JHY CCDC15 PUS3 JAM3 KIRREL3 RPUSD4 TBRG1 UBASH3B SNORD14C SNORD14D SNORD14E GLB1L2 ESAM VPS26B GLB1L3 TIRAP PANX3 TMEM45B PATE1 ADAMTS15 KCNJ5-AS1 HYLS1 TMEM218 SLC37A2 OR8B12 OR8G5 OR10G8 OR10G9 OR10S1 OR6T1 OR4D5 TBCEL TLCD5 SPATA19 HEPACAM OR8D1 OR8D2 OR8B4 KIRREL3-AS3 LINC02873 B3GAT1-DT TMEM225 OR8D4 VSIG10L2 OR8G3P BSX OR6X1 OR6M1 OR10G4 OR10G7 OR8B3 OR8A1 MIR100HG PATE2 PATE4 GSEC LOC399975 SNX19 LOC403312 MIRLET7A2 MIR100 MIR125B1 BLID PRDM10-DT HEPN1 ZBTB44-DT LINC02743 LOC649133 LINC02714 LINC02731 PATE3 TRK-TTT2-1 MIR3167 MSANTD2-AS1 SENCR LINC02551 LOC100507548 MIR4697 MIR4493 KIRREL3-AS1 KIRREL3-AS2 NTM-IT OPCML-IT1 LOC101929208 LOC101929227 ESAM-AS1 LOC101929427 LOC101929473 LINC02712 ETS1-AS1 LOC101929538 LINC01395 NTM-AS1 LOC101929653 MIR6090 MIR8052 PKNOX2-DT LOC105369532 LOC105369535 SORL1-AS1 LINC02727 PKNOX2-AS1 STT3A-AS1 TIRAP-AS1 LOC105369558 LINC02725 LINC02098 LINC02706 LINC02697 LINC02730 LOC108165612 LOC108165613 LOC108281156 LOC108353823 SNORD153 LOC110120853 LOC110120944 LOC110121418 LOC111365219 LOC111464985 LOC111465015 LOC112042783 LOC112042784 LOC112042785 LOC112042786 LOC112061819 LOC112061820 LOC112061821 LOC112061822 LOC112061823 LOC112067710 LOC112067711 MIR10526 LOC114803469 LOC116225304 LOC116225305 LOC116225306 LOC116225307 TBCEL-TECTA LOC118567325 LOC121392948 LOC121392949 LOC121392950 LOC121392951 LOC121392952 LOC121392953 LOC121392954 LOC121832822 LOC121832823 LOC121832824 LOC124625855 LOC124625856 LOC124625857 LOC124625858 LOC124625859 LOC124625860 LOC124625861 LOC124625862 LOC124625863 LOC124625864 LOC124625865 LOC124625866 LOC124625867 LOC124625868 LOC124625870 LOC124625871 LOC124625872 LOC124625873 LOC124625874 LOC124625875 LOC126861364 LOC126861365 LOC126861366 LOC126861367 LOC126861368 LOC126861369 LOC126861370 LOC126861371 LOC126861372 LOC126861373 LOC126861374 LOC126861375 LOC126861376 LOC126861377 LOC126861378 LOC126861379 LOC126861380 LOC126861381 LOC126861382 LOC126861383 LOC126861384 LOC126861385 LOC126861386 LOC126861387 LOC126861388 LOC126861389 LOC126861390 LOC126861391 LOC126861392 LOC126861393 LOC126861394 LOC126861395 LOC126861396 LOC126861397 LOC126861398 LOC126861399 LOC126861400 LOC126861401 LOC126861402 LOC126861403 LOC126861404 LOC126861405 LOC126861406 LOC126861407 LOC126861408 LOC126861409 LOC127823033 LOC128462392 LOC128462393 LOC128462394 LOC128462411 LOC128772364 LOC128772365 LOC128772366 LOC128772367 LOC128772368 LOC128772369 LOC128772370 LOC128772371 LOC128772372 LOC128772373 LOC129390371 LOC129390372 LOC129390373 LOC129390374 LOC129390375 LOC129390376 LOC129390377 LOC129390378 LOC129390379 LOC129390380 LOC129390381 LOC129390382 LOC129390383 LOC129390384 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 LOC130007035 LOC130007036 LOC130007037 LOC130007038 LOC130007039 LOC130007040 LOC130007041 LOC130007042 LOC130007043 LOC130007044 LOC130007045 LOC130007046 LOC130007047 LOC130007048 LOC130007049 LOC130007050 LOC130007051 LOC130007052 LOC130007053 LOC130007054 LOC130007055 LOC130007056 LOC130007057 LOC130007058 LOC130007059 LOC130007060 LOC130007061 LOC130007062 LOC130007063 LOC130007064 LOC130007065 LOC130007066 LOC130007067 LOC130007068 LOC130007069 LOC130007070 LOC130007071 LOC130007072 LOC130007073 LOC130007074 LOC130007075 LOC130007076 LOC130007077 LOC130007078 LOC130007079 LOC130007080 LOC130007081 LOC130007082 LOC130007083 LOC130007084 LOC130007085 LOC130007086 LOC130007087 LOC130007088 LOC130007089 LOC130007090 LOC130007091 LOC130007092 LOC130007093 LOC130007094 LOC130007095 LOC130007096 LOC130007097 LOC130007098 LOC130007099 LOC130007100 LOC130007101 LOC130007102 LOC130007103 LOC130007104 LOC130007105 LOC130007106 LOC130007107 LOC130007108 LOC130007109 LOC130007110 LOC130007111 LOC130007112 LOC130007113 LOC130007114 LOC130007115 LOC130007116 LOC130007117 LOC130007118 LOC130007119 LOC130007120 LOC130007121 LOC130007122 LOC130007123 LOC130007124 LOC130007125 LOC130007126 LOC130007127 LOC130007128 LOC130007129 LOC132089907 LOC132089908 LOC132211105
Associated Variants
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3
Source Database
ClinVar
Description
GRCh38/hg38 11q23.3-25(chr11:120236432-135040246)x3 AND See cases
ClinVar Allele ID
74372
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2011-08-12
Clinical Significance Review Status
criteria provided, single submitter
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000053643
Observed Origin Sample
not provided
Drugs