Annotation Detail

Information
Associated Genes
ACADSB ADAM8 BNIP3 CTBP2 CYP2E1 DMBT1 DOCK1 ECHS1 FGFR2 PRLHR GPR26 GRK5 HMX2 INPP5A MGMT MKI67 OAT HTRA1 PTPRE RGS10 TIAL1 UROS ADAM12 UTF1 EIF3A BUB3 BAG3 FAM53B GLRX3 DPYSL4 TACC2 TUBGCP2 PRDX3 ATE1 SEC23IP RAB11FIP2 INPP5F ABRAXAS2 EDRF1 VENTX CUZD1 CALY CHST15 ZRANB1 CFAP46 NSMCE4A WDR11 DHX32 PPP2R2D BCCIP PLEKHA1 FAM204A LHPP IKZF5 MCMBP C10orf88 LRRC27 ADGRA1 NKX6-2 KNDC1 MTG1 FANK1 SYCE1 PRAP1 ZNF511 C10orf90 BTBD16 FAM24A PSTK MMP21 CLRN3 SFXN4 CPXM2 CACUL1 LINC02870 PWWP2B PLPP4 PAOX FAM24B EBF3 CASC2 TCERG1L FUOM JAKMIP3 STK32C LOC283038 WDR11-DT NANOS1 HMX3 ARMS2 TEX36 C10orf143 NKX1-2 C10orf120 EEF1AKMT2 EDRF1-DT FOXI2 LINC01164 LINC01168 LINC01561 DENND10 SPRN MIR202 NPS SCART1 SNORA19 INSYN2A LOC728158 LINC02667 ADGRA1-AS1 LINC01165 ATE1-AS1 TEX36-AS1 MIR378C MIR4297 MIR4296 MIR3941 MIR3944 LINC00867 FAM24B-CUZD1 MIR4682 MIR4484 MIR4681 LINC00601 FANK1-AS1 LINC01163 TCERG1L-AS1 LINC01166 MIR202HG GRK5-IT1 LINC01153 FAM53B-AS1 EDRF1-AS1 LOC102724883 LINC01167 ZNF511-PRAP1 LINC02641 LOC105378552 AS-PTPRE JAKMIP3-AS1 LINC03068 LOC107984281 LOC107984282 LOC110120846 LOC110120851 LOC110120852 LOC110120892 LOC110120898 LOC110120916 LOC110120919 LOC110120924 LOC110120928 LOC110121344 LOC110121396 LOC110121444 LOC110599579 LOC110599585 LOC111818958 LOC111818962 LOC111818963 LOC111875828 LOC111875829 LOC111875830 LOC111875831 LOC111875832 LOC111875833 LOC111875834 LOC111875835 LOC111946221 SPADH LOC113939915 LOC121366084 LOC121366085 LOC121366086 LOC121366087 LOC121366088 LOC121366089 LOC121366090 LOC121366091 LOC121366092 LOC121366093 LOC121815970 LOC121815971 LOC121815972 LOC121815973 LOC121815974 LOC121815975 LOC121815976 LOC121815977 LOC124416919 LOC124416920 LOC124416921 LOC124416922 LOC124416923 LOC124416924 LOC124416925 LOC124416926 LOC124416927 LOC124416928 LOC124416929 LOC124416930 LOC124416931 LOC124416932 LOC124416933 LOC124416934 LOC124416935 LOC124416936 LINC03036 LOC126861057 LOC126861058 LOC126861059 LOC126861060 LOC126861061 LOC126861062 LOC126861063 LOC126861064 LOC126861065 LOC126861066 LOC126861067 LOC126861068 LOC126861069 LOC126861070 LOC126861071 LOC126861072 LOC126861073 LOC126861074 LOC126861075 LOC126861076 LOC126861077 LOC126861078 LOC126861079 LOC126861080 LOC126861081 LOC126861082 LOC126861083 LOC126861084 LOC126861085 LOC126861086 LOC126861087 LOC126861088 LOC126861089 LOC126861090 LOC126861091 LOC126861092 LOC126861093 LOC126861094 LOC126861095 LOC126861096 LOC126861097 LOC126861098 LOC126861099 LOC126861100 LOC126861101 LOC126861102 LOC126861103 LOC126861104 LOC126861105 LOC126861106 LOC126861107 LOC128598885 LOC129390233 LOC129390234 LOC129390235 LOC129390236 LOC129390237 LOC129390238 LOC129390239 LOC129390240 LOC129390241 LOC129390242 LOC130004819 LOC130004820 LOC130004821 LOC130004822 LOC130004823 LOC130004824 LOC130004825 LOC130004826 LOC130004827 LOC130004828 LOC130004829 LOC130004830 LOC130004831 LOC130004832 LOC130004833 LOC130004834 LOC130004835 LOC130004836 LOC130004837 LOC130004838 LOC130004839 LOC130004840 LOC130004841 LOC130004842 LOC130004843 LOC130004844 LOC130004845 LOC130004846 LOC130004847 LOC130004848 LOC130004849 LOC130004850 LOC130004851 LOC130004852 LOC130004853 LOC130004854 LOC130004855 LOC130004856 LOC130004857 LOC130004858 LOC130004859 LOC130004860 LOC130004861 LOC130004862 LOC130004863 LOC130004864 LOC130004865 LOC130004866 LOC130004867 LOC130004868 LOC130004869 LOC130004870 LOC130004871 LOC130004872 LOC130004873 LOC130004874 LOC130004875 LOC130004876 LOC130004877 LOC130004878 LOC130004879 LOC130004880 LOC130004881 LOC130004882 LOC130004883 LOC130004884 LOC130004885 LOC130004886 LOC130004887 LOC130004888 LOC130004889 LOC130004890 LOC130004891 LOC130004892 LOC130004893 LOC130004894 LOC130004895 LOC130004896 LOC130004897 LOC130004898 LOC130004899 LOC130004900 LOC130004901 LOC130004902 LOC130004903 LOC130004904 LOC130004905 LOC130004906 LOC130004907 LOC130004908 LOC130004909 LOC130004910 LOC130004911 LOC130004912 LOC130004913 LOC130004914 LOC130004915 LOC130004916 LOC130004917 LOC130004918 LOC130004919 LOC130004920 LOC130004921 LOC130004922 LOC130004923 LOC130004924 LOC130004925 LOC130004926 LOC130004927 LOC130004928 LOC130004929 LOC130004930 LOC130004931 LOC130004932 LOC130004933 LOC130004934 LOC130004935 LOC130004936 LOC130004937 LOC130004938 LOC130004939 LOC130004940 LOC130004941 LOC130004942 LOC130004943 LOC130004944 LOC130004945 LOC130004946 LOC130004947 LOC130004948 LOC130004949 LOC130004950 LOC130004951 LOC130004952 LOC130004953 LOC130004954 LOC130004955 LOC130004956 LOC130004957 LOC130004958 LOC130004959 LOC130004960 LOC130004961 LOC130004962 LOC130004963 LOC130004964 LOC130004965 LOC130004966 LOC130004967 LOC130004968 LOC130004969 LOC130004970 LOC130004971 LOC130004972 LOC130004973 LOC130004974 LOC130004975 LOC130004976 LOC130004977 LOC130004978 LOC130004979 LOC130004980 LOC130004981 LOC130004982 LOC130004983 LOC130004984 LOC130004985 LOC130004986 LOC130004987 LOC130004988 LOC130004989 LOC130004990 LOC130004991 LOC130004992 LOC130004993 LOC130004994 LOC130004995 LOC130004996 LOC130004997 LOC130004998 LOC130004999 LOC130005000 LOC130005001 LOC130005002 LOC130005003 LOC130005004 LOC130005005 LOC130005006 LOC130005007 LOC130005008 LOC130005009 LOC130005010 LOC130005011 LOC130005012 LOC130005013 LOC130005014 LOC130005015 LOC130005016 LOC130005017 LOC130005018 LOC130005019 LOC130005020 LOC130005021 LOC130005022 LOC130005023 LOC130005024 LOC130005025 LOC130005026 LOC130005027 LOC130005028 LOC130005029 LOC130005030 LOC130005031 LOC130005032 LOC130005033 LOC130005034 LOC130005035 LOC130005036 LOC132089741 LOC132089742 LOC132089743 LOC132089744 LOC132089745 LOC132089746 LOC132089747 LOC132089748 LOC132089749 LOC132089750 LOC132089751 LOC132089752 LOC132089753 LOC132089754 LOC132089755 LOC132089756 LOC132089757 LOC132089758 LOC132089759 LOC132089760 LOC132089761 LOC132090826 LOC132090827 LOC132090828 LOC132090829 LOC132090830 LOC132211103 LOC132211104
Associated Variants
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3
Source Database
ClinVar
Description
GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3 AND See cases
ClinVar Allele ID
74323
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/RCV000053589
Observed Origin Sample
not provided
Drugs