Annotation Detail
Information
- Associated Genes
- ACTG1 ARHGDIA CD7 CSNK1D SLC25A10 FASN GAA GCGR UTS2R GPS1 FOXK2 LGALS3BP MAFG NPTX1 P4HB PDE6G PYCR1 PCYT2 RAC3 RFNG MRPL12 SECTM1 SGSH TBCD TIMP2 CBX4 SLC16A3 HGS AATK EIF4A3 ALYREF BAIAP2 RAB40B CEP131 FSCN2 NARF DCXR ANAPC11 SIRT7 CCDC40 NPLOC4 WDR45B CBX8 RPTOR BAHCC1 RNF213 DUS1L FN3K ENGASE ASPSCR1 CARD14 CYBC1 CHMP6 FN3KRP OGFOD3 ZNF750 FAAP100 TSPAN10 CBX2 MILIP C1QTNF1 PPP1R27 SLC38A10 CANT1 TBC1D16 TEPSIN B3GNTL1 RBFOX3 NOTUM CENPX LRRC45 MYADML2 NPB CCDC57 HEXD SLC26A11 ENDOV NDUFAF8 LINC00482 TMEM105 METRNL ENPP7 OXLD1 CCDC137 ARL16 MCRIP1 PVALEF LOC400627 TEX19 BAIAP2-DT MIR338 MIR657 LINC03048 TRX-CAT1-8 RNF213-AS1 MIR1250 MIR3065 MIR3186 HEXD-IT1 C1QTNF1-AS1 MIR1268B MIR4739 MIR4525 MIR4740 MIR4730 LINC02078 CEP295NL LINC01978 LINC01979 LOC101928855 LINC01970 LOC101929552 MIR6786 MIR6787 LINC01977 LOC105371925 LINC01971 NARF-AS2 SNORD134 LOC108254691 LOC108281162 LOC108348028 LOC112533676 LOC112533677 LOC112533678 LOC112533679 LOC112533680 LOC112533681 LOC112533682 LOC112533686 LOC112533687 DCXR-DT LOC116276483 LOC116276484 LOC116276485 RENO1 LOC121627816 LOC121627817 LOC121627818 LOC121627819 LOC121627820 LOC121852953 LOC121852954 LOC121852955 LOC121852956 LOC121852957 LOC125316808 LOC125316809 LOC125316810 LOC125316811 LOC125316812 LOC125316813 LOC125316814 LOC125316815 LOC125316816 LOC125316817 LOC125316818 LOC125316819 LOC125316821 LOC125316822 LOC125316823 LOC126862658 LOC126862659 LOC126862660 LOC126862661 LOC126862662 LOC126862663 LOC126862664 LOC126862665 LOC126862666 LOC126862667 LOC126862668 LOC126862669 LOC126862670 LOC126862671 LOC126862672 LOC126862673 LOC126862674 MAFG-AS1 LOC129390945 LOC129390946 LOC129390947 LOC129390948 LOC129390949 LOC129390950 LOC130061866 LOC130061867 LOC130061868 LOC130061869 LOC130061870 LOC130061871 LOC130061872 LOC130061873 LOC130061874 LOC130061875 LOC130061876 LOC130061877 LOC130061878 LOC130061879 LOC130061880 LOC130061881 LOC130061882 LOC130061883 LOC130061884 LOC130061885 LOC130061886 LOC130061887 LOC130061888 LOC130061889 LOC130061890 LOC130061891 LOC130061892 LOC130061893 LOC130061894 LOC130061895 LOC130061896 LOC130061897 LOC130061898 LOC130061899 LOC130061900 LOC130061901 LOC130061902 LOC130061903 LOC130061904 LOC130061905 LOC130061906 LOC130061907 LOC130061908 LOC130061909 LOC130061910 LOC130061911 LOC130061912 LOC130061913 LOC130061914 LOC130061915 LOC130061916 LOC130061917 LOC130061918 LOC130061919 LOC130061920 LOC130061921 LOC130061922 LOC130061923 LOC130061924 LOC130061925 LOC130061926 LOC130061927 LOC130061928 LOC130061929 LOC130061930 LOC130061931 LOC130061932 LOC130061933 LOC130061934 LOC130061935 LOC130061936 LOC130061937 LOC130061938 LOC130061939 LOC130061940 LOC130061941 LOC130061942 LOC130061943 LOC130061944 LOC130061945 LOC130061946 LOC130061947 LOC130061948 LOC130061949 LOC130061950 LOC130061951 LOC130061952 LOC130061953 LOC130061954 LOC130061955 LOC130061956 LOC130061957 LOC130061958 LOC130061959 LOC130061960 LOC130061961 LOC130061962 LOC130061963 LOC130061964 LOC130061965 LOC130061966 LOC130061967 LOC130061968 LOC130061969 LOC130061970 LOC130061971 LOC130061972 LOC130061973 LOC130061974 LOC130061975 LOC130061976 LOC130061977 LOC130061978 LOC130061979 LOC130061980 LOC130061981 LOC130061982 LOC130061983 LOC130061984 LOC130061985 LOC130061986 LOC130061987 LOC130061988 LOC130061989 LOC130061990 LOC130061991 LOC130061992 LOC130061993 LOC130061994 LOC130061995 LOC130061996 LOC130061997 LOC130061998 LOC130061999 LOC130062000 LOC130062001 LOC130062002 LOC130062003 LOC130062004 LOC130062005 LOC130062006 LOC130062007 LOC130062008 LOC130062009 LOC130062010 LOC130062011 LOC130062012 LOC130062013 LOC130062014 LOC130062015 LOC130062016 LOC130062017 LOC130062018 LOC130062019 LOC130062020 LOC130062021 LOC130062022 LOC130062023 LOC130062024 LOC130062025 LOC130062026 LOC130062027 LOC130062028 LOC130062029 LOC130062030 LOC130062031 LOC130062032 LOC130062033 LOC130062034 LOC130062035 LOC130062036 LOC130062037 LOC130062038 LOC130062039 LOC130062040 LOC130062041 LOC130062042 LOC130062043 LOC130062044 LOC130062045 LOC130062046 LOC130062047 LOC130062048 LOC130062049 LOC130062050 LOC130062051 LOC130062052 LOC130062053 LOC130062054 LOC130062055 LOC130062056 LOC130062057 LOC130062058 LOC130062059 LOC130062060 LOC130062061 LOC130062062 LOC130062063 LOC130062064 LOC130062065 LOC130062066 LOC130062067 LOC132090482 LOC132090896
- Associated Variants
-
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3
GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 17q25.3(chr17:78901959-83086677)x3 AND See cases
- ClinVar Allele ID
- 71858
- 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/RCV000050934
- Observed Origin Sample
- not provided
Drugs