Annotation Detail

Information
Associated Genes
ABL2 FASLG ASTN1 SERPINC1 CACNA1E DHX9 FMO1 FMO2 FMO3 FMO4 GLUL MR1 LAMC1 LAMC2 MYOC NCF2 PDC PIGC PLA2G4A PRRX1 PTGS2 QSOX1 RGS16 RNASEL RNF2 SOAT1 TNR TPR TNFSF4 NPHS2 VAMP4 TNFSF18 ANGPTL1 XPR1 GPR52 RASAL2 PRDX6 KIAA0040 CEP350 SMG7 RABGAP1L FAM20B ARPC5 PRG4 STX6 IVNS1ABP KIFAP3 NMNAT2 COLGALT2 RGL1 PRRC2C DNM3 TOR1AIP1 SNORD81 SNORD79 SNORD80 SNORD47 SNORD44 CACYBP KLHL20 IER5 SUCO METTL13 SWT1 ODR4 RALGPS2 DARS2 KIAA1614 BRINP2 GAS5 PAPPA2 TNN MRPS14 TOR3A COP1 MROH9 EDEM3 NPL C1orf21 SHCBP1L TRMT1L HMCN1 TEX35 ACBD6 ZBTB37 RGS8 SEC16B LHX4 CENPL GORAB C1orf105 TSEN15 NIBAN1 AXDND1 ZNF648 TEDDM1 FAM163A OVAAL RC3H1 NTMT2 TDRD5 TOR1AIP2 SLC9C2 LINC01686 SMG7-AS1 LINC01142 ANKRD45 RGSL1 LINC00272 CLEC20A C1orf220 LINC01344 APOBEC4 MIR199A2 MIR214 MIR488 SNORD74 RALGPS2-AS1 DHX9-AS1 SCARNA3 SNORD75 SNORD76 SNORD77 SNORD78 TEX50 LINC01699 MIR1295A RASAL2-AS1 MIR3119-1 MIR3120 MIR3119-2 MIR3121 LOC100506023 GAS5-AS1 LHX4-AS1 MIR4424 DNM3OS MIR1295B DNM3-IT1 GORAB-AS1 PRDX6-AS1 RABGAP1L-AS1 LINC01657 LINC01741 LINC01732 LINC01633 LINC01350 RABGAP1L-DT LINC01645 PDC-AS1 KIAA1614-AS1 PACERR LINC01036 LINC01681 RC3H1-DT LOC105371622 LINC02816 LINC01688 GS1-204I12.4 LINC01037 SNORA103 LOC108318669 LOC110121215 MYOCOS LAMC1-AS1 CRYZL2P-SEC16B LOC111365143 LOC111501763 LOC111556138 LOC112577513 LOC112577514 LOC112577515 LOC112577517 LOC112577519 LOC112577520 LOC112577521 LOC112577522 MIR12116 MIR1843 LOC113939981 LOC115801455 LOC115801456 LOC115804233 LOC115804234 LOC115804235 LOC115804236 C1orf21-DT LOC120766158 LOC120893166 LOC120893168 LOC121725064 LOC121725065 LOC121725066 COP1-DT LOC122149295 LOC122149296 LOC122149297 LOC122149307 LOC122149308 LOC122149309 LOC122149310 LOC122149311 LOC122149312 LOC122149313 LOC122149314 LOC122149315 LOC122149316 LOC122149317 LOC122149318 LOC122149319 LOC122149320 LOC122149321 LOC122149322 LOC122149323 LOC122149324 LOC122149325 LOC122149326 LOC122149327 LOC122149328 LOC122149329 LOC122149330 LOC122149331 LOC126805913 LOC126805914 LOC126805915 LOC126805916 LOC126805917 LOC126805918 LOC126805919 LOC126805920 LOC126805921 LOC126805922 LOC126805923 LOC126805924 LOC126805925 LOC126805926 LOC126805927 LOC126805928 LOC126805929 LOC126805930 LOC126805931 LOC126805932 LOC126805933 LOC126805934 LOC126805935 LOC126805936 LOC126805937 LOC126805938 LOC126805939 LOC126805940 LOC126805941 LOC126805942 LOC126805943 LOC126805944 LOC126805945 LOC126805946 LOC126805947 LOC126805948 LOC126805949 LOC126805950 LOC126805951 LOC126805952 LOC126805953 LOC126805954 LOC126805955 LOC126805956 LOC128071543 LOC129388629 LOC129388630 LOC129388631 LOC129388632 LOC129388633 LOC129388634 LOC129388635 LOC129388636 LOC129388637 LOC129388638 LOC129388639 LOC129388640 LOC129388641 LOC129388642 LOC129388643 LOC129388644 LOC129388645 LOC129388646 LOC129388647 LOC129388648 LOC129388649 LOC129388650 LOC129388651 LOC129388652 LOC129388653 LOC129388654 LOC129388655 LOC129388656 LOC129388657 LOC129388658 LOC129388659 LOC129388660 LOC129388661 LOC129388662 LOC129388663 LOC129388664 LOC129388665 LOC129388666 LOC129388667 LOC129388668 LOC129388669 LOC129388670 LOC129388671 LOC129931901 LOC129931902 LOC129931903 LOC129931904 LOC129931905 LOC129931906 LOC129931907 LOC129931908 LOC129931909 LOC129931910 LOC129931911 LOC129931912 LOC129931913 LOC129931914 LOC129931915 LOC129931916 LOC129931917 LOC129931918 LOC129931919 LOC129931920 LOC129931921 LOC129931922 LOC129931923 LOC129931924 LOC129931925 LOC129931926 LOC129931927 LOC129931928 LOC129931929 LOC129931930 LOC129931931 LOC129931932 LOC129931933 LOC129931934 LOC129931935 LOC129931936 LOC129931937 LOC129931938 LOC129931939 LOC129931940 LOC129931941 LOC129931942 LOC129931943 LOC129931944 LOC129931945 LOC129931946 LOC129931947 LOC129931948 LOC129931949 LOC129931950 LOC129931951 LOC129931952 LOC129931953 LOC129931954 LOC129931955 LOC129931956 LOC129931957 LOC129931958 LOC129931959 LOC129931960 LOC129931961 LOC129931962 LOC129931963 LOC129931964 LOC129931965 LOC129931966 LOC129931967 LOC129931968 LOC129931969 LOC129931970 LOC129931971 LOC129931972 LOC129931973 LOC129931974 LOC129931975 LOC129931976 LOC129931977 LOC129931978 LOC129931979 LOC129931980 LOC129931981 LOC129931982 LOC129931983 LOC129931984 LOC129931985 LOC129931986 LOC129931987 LOC129931988 LOC129931989 LOC129931990 LOC129931991 LOC129931992 LOC129931993 LOC129931994 LOC129931995 LOC129931996 LOC129931997 LOC129931998 LOC129931999 LOC129932000 LOC129932001 LOC129932002 LOC129932003 LOC129932004 LOC129932005 LOC129932006 LOC129932007 LOC129932008 LOC129932009 LOC129932010 LOC129932011 LOC129932012 LOC129932013 LOC129932014 LOC129932015 LOC129932016 LOC129932017 LOC129932018 LOC129932019 LOC129932020 LOC129932021 LOC129932022 LOC129932023 LOC129932024 LOC129932025 LOC129932026 LOC129932027 LOC129932028 LOC129932029 LOC129932030 LOC129932031 LOC129932032 LOC129932033 LOC129932034 LOC129932035 LOC129932036 LOC129932037 LOC129932038 LOC129932039 LOC129932040 LOC129932041 LOC129932042 LOC129932043 LOC129932044 LOC129932045 LOC129932046 LOC129932047 LOC129932048 LOC129932049 LOC129932050 LOC129932051 LOC129932052 LOC129932053 LOC129932054 LOC129932055 LOC129932056 LOC129932057 LOC129932058 LOC129932059 LOC129932060 LOC129932061 LOC129932062 LOC129932063 LOC129932064 LOC129932065 LOC129932066 LOC129932067 LOC129932068 LOC129932069 LOC129932070 LOC129932071 LOC129932072 LOC129932073 LOC129932074 LOC129932075 LOC129932076 LOC129932077 LOC129932078 LOC129932079 LOC129932080 LOC129932081 LOC129932082 LOC129932083 LOC129932084 LOC129932085 LOC129932086 LOC129932087 LOC129932088 LOC129932089 LOC129932090 LOC129932091 LOC129932092 LOC129932093 LOC129932094 LOC129932095 LOC129932096 LOC129932097 LOC129932098 LOC129932099 LOC129932100 LOC129932101 LOC129932102 LOC129932103 LOC129932104 LOC129932105 LOC129932106 LOC129932107 LOC129932108 LOC129932109 LOC129932110 LOC129932111 LOC129932112 LOC129932113 LOC129932114 LOC129932115 LOC129932116 LOC129932117 LOC129932118 LOC129932119 LOC129932120 LOC129932121 LOC129932122 LOC129932123 LOC129932124 LOC129932125 LOC129932126 LOC129932127 LOC129932128 LOC132088598 LOC132088599 LOC132088600
Associated Variants
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1
Source Database
ClinVar
Description
GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1 AND See cases
ClinVar Allele ID
165375
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2013-11-27
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000143688
Observed Origin Sample
not provided
Drugs