Annotation Detail

Information
Associated Genes
ACVR1 ATP5MC3 CHN1 CHRNA1 ATF2 DLX1 DLX2 DYNC1I2 DPP4 FAP GAD1 GALNT3 GCG GPD2 GRB14 ITGA6 ITGB6 KCNJ3 LRP2 LY75 NR4A2 PDK1 RBMS1 SCN1A SCN2A SCN3A SCN7A SCN9A SP3 SSB WIPF1 PKP4 HAT1 SLC25A12 ABCB11 B3GALT1 PPIG CIR1 CYTIP TLK1 CD302 TANK DHRS9 PSMD14 KLHL41 TBR1 RAPGEF4 GALNT5 COBLL1 PLA2R1 GCA GORASP2 STK39 METTL5 OLA1 BAZ2B MAP3K20 FIGN SLC4A10 SPC25 ERMN G6PC2 IFIH1 MARCHF7 SCRN3 FASTKD1 TTC21B METTL8 CYBRD1 CSRNP3 DCAF17 LNPK CDCA7 TANC1 KCNH7 RAPGEF4-AS1 DAPL1 GALNT13 NOSTRIN XIRP2 BBS5 CFAP210 ACVR1C UBR3 CCDC148 MYO3B KLHL23 SLC38A11 WDSUB1 UPP2 GPR155 CERS6 METAP1D LINC01305 ERICH2 MAP3K20-AS1 SP5 FLJ46875 LINC01124 PHOSPHO2 CCDC148-AS1 BAZ2B-AS1 MIR933 LINC01960 PKP4-AS1 LOC100130256 SP9 DPP4-DT GALNT13-AS1 TRA-CGC3-1 TRG-GCC2-2 SNORA70F LINC02478 LOC100506124 TTC21B-AS1 LY75-CD302 PHOSPHO2-KLHL23 MIR4774 MIR4785 CERS6-AS1 XIRP2-AS1 LINC01806 ERICH2-DT LINC01876 PSMD14-DT LOC101929532 KCNH7-AS1 LOC101929633 SCN1A-AS1 MYO3B-AS1 ITGA6-AS1 MIR6888 LOC102724058 DLX2-DT TANK-AS1 GPR155-DT B3GALT1-AS1 LOC108175345 LOC108281133 SNORD3K LOC110120601 LOC110120624 LOC110120625 LOC110120626 LOC110120673 LOC110120674 LOC110120675 LOC110120676 LOC110120677 LOC110120678 LOC110120701 LOC110120708 LOC110120710 LOC110120725 LOC110120730 LOC110120736 LOC110120790 LOC110120809 LOC110121120 LOC110121216 LOC110121242 LOC111413009 LOC111556122 LOC112806056 LOC112806057 LOC112806058 LOC112806059 LOC112806060 LOC114827830 LOC115945201 LOC117152610 LOC117152611 LOC120977010 LOC120977011 LOC120977012 LOC120977013 LOC120977014 LOC120977015 LOC121725105 LOC121725106 LOC121725107 LOC122847298 LOC122847299 LOC122847300 LOC122847301 LOC122847302 LOC122847303 LOC122847304 LOC122847305 LOC122847306 LOC122847307 LOC122847308 LOC122847309 LOC122847310 LOC122847311 LOC122847312 LOC122847313 LOC122847314 LOC122847315 LOC122847316 LOC122847317 LOC122847318 LOC122847319 LOC122847320 LOC122861240 LOC122861241 LOC122861242 LOC122861243 LOC122861244 LOC122861245 LOC122861246 PDK1-AS1 LOC126806382 LOC126806383 LOC126806384 LOC126806385 LOC126806386 LOC126806387 LOC126806388 LOC126806389 LOC126806390 LOC126806391 LOC126806392 LOC126806393 LOC126806394 LOC126806395 LOC126806396 LOC126806397 LOC126806398 LOC126806399 LOC126806400 LOC126806401 LOC126806402 LOC126806403 LOC126806404 LOC126806405 LOC126806406 LOC126806407 LOC126806408 LOC126806409 LOC126806410 LOC126806411 LOC126806412 LOC129388933 LOC129388934 LOC129388935 LOC129388936 LOC129388937 LOC129388938 LOC129388939 LOC129388940 LOC129388941 LOC129388943 LOC129388944 LOC129388945 LOC129388946 LOC129388947 LOC129388948 LOC129388949 LOC129388950 LOC129388951 LOC129388952 LOC129388953 LOC129934938 LOC129934939 LOC129934940 LOC129934941 LOC129934942 LOC129934943 LOC129934944 LOC129934945 LOC129934946 LOC129934947 LOC129934948 LOC129934949 LOC129934950 LOC129934951 LOC129934952 LOC129934953 LOC129934954 LOC129934955 LOC129934956 LOC129934957 LOC129934958 LOC129934959 LOC129934960 LOC129934961 LOC129934962 LOC129934963 LOC129934964 LOC129934965 LOC129934966 LOC129934967 LOC129934968 LOC129934969 LOC129934970 LOC129934971 LOC129934972 LOC129934973 LOC129934974 LOC129934975 LOC129934976 LOC129934977 LOC129934978 LOC129934979 LOC129934980 LOC129934981 LOC129934982 LOC129934983 LOC129934984 LOC129934985 LOC129934986 LOC129934987 LOC129934988 LOC129934989 LOC129934990 LOC129934991 LOC129934992 LOC129934993 LOC129934994 LOC129934995 LOC129934996 LOC129934997 LOC129934998 LOC129934999 LOC129935000 LOC129935001 LOC129935002 LOC129935003 LOC129935004 LOC129935005 LOC129935006 LOC129935007 LOC129935008 LOC129935009 LOC129935010 LOC129935011 LOC129935012 LOC129935013 LOC129935014 LOC129935015 LOC129935016 LOC129935017 LOC129935018 LOC129935019 LOC129935020 LOC129935021 LOC129935022 LOC129935023 LOC129935024 LOC129935025 LOC129935026 LOC129935027 LOC129935028 LOC129935029 LOC129935030 LOC129935031 LOC129935032 LOC129935033 LOC129935034 LOC129935035 LOC129935036 LOC129935037 LOC129935038 LOC129935039 LOC129935040 LOC129935041 LOC129935042 LOC129935043 LOC129935044 LOC129935045 LOC129935046 LOC129935047 LOC129935048 LOC129935049 LOC129935050 LOC129935051 LOC129935052 LOC129935053 LOC129935054 LOC129935055 LOC129935056 LOC129935057 LOC129935058 LOC129935059 LOC129935060 LOC129935061 LOC129935062 LOC129935063 LOC129935064 LOC129935065 LOC129935066 LOC129935067 LOC129935068 LOC129935069 LOC129935070 LOC129935071 LOC129935072 LOC129935073 LOC129935074 LOC129935075 LOC129935076 LOC129935077 LOC129935078 LOC129935079 LOC129935080 LOC129935081 LOC129935082 LOC129935083 LOC129935084 LOC129935085 LOC129935086 LOC129935087 LOC129935088 LOC129935089 LOC129935090 LOC129935091 LOC129935092 LOC129935093 LOC129935094 LOC129935095 LOC129935096 LOC129935097 LOC129935098 LOC129935099 LOC129935100 LOC129935101 LOC129935102 LOC129935103 LOC129935104 LOC129935105 LOC129935106 LOC129935107 LOC129935108 LOC129935109 LOC129935110 LOC129935111 LOC129935112 LOC129935113 LOC129935114 LOC129935115 LOC129935116 LOC129935117 LOC129935118 LOC129935119 LOC129935120 LOC129935121 LOC129935122 LOC129935123 LOC129935124 LOC129935125 LOC129935126 LOC129935127 LOC129935128 LOC129935129 LOC129935130 LOC129935131 LOC129935132 LOC129935133 LOC129935134 LOC129935135 LOC129935136 LOC129935137 LOC129935138 LOC129935139 LOC129935140 LOC129935141 LOC129935142 LOC129935143 LOC129935144 LOC129935145 LOC129935146 LOC129935147 LOC129935148 LOC129935149 LOC129935150 LOC129935151 LOC129935152 LOC129935153 LOC129935154 LOC129935155 LOC132088761 LOC132088762 LOC132088763 LOC132088764 LOC132088765 LOC132088766 LOC132088767 LOC132088768 LOC132088769 LOC132088770 LOC132088771 LOC132088772 LOC132088773 LOC132088774 LOC132088775 LOC132088776 LOC132088777 LOC132088778 LOC132088779 LOC132088780 LOC132088781 LOC132088782 LOC132088783 LOC132088784 LOC132088785 LOC132088786 LOC132088787 LOC132088788 LOC132088789 LOC132088790 LOC132088791 LOC132088792 LOC132088793 LOC132088794 LOC132088795 LOC132088796 LOC132088797 LOC132088798 LOC132088799 LOC132088800 LOC132088801 LOC132088802 LOC132088803 LOC132090680 LOC132090681 LOC132090682 LOC132090683 LOC132090684 LOC132090685 LOC132090686 LOC132090687
Associated Variants
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3
Source Database
ClinVar
Description
GRCh38/hg38 2q24.1-31.1(chr2:154294042-175989372)x3 AND See cases
ClinVar Allele ID
163928
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2014-03-10
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000142286
Observed Origin Sample
not provided
Drugs