Annotation Detail
Information
- Associated Genes
- ACHE AZGP1 AP1S1 CYP3A7 CYP3A4 CYP3A5 EPHB4 EPO GNB2 AGFG2 LRCH4 MCM7 MUC3A NPTX2 SERPINE1 PCOLCE TAF6 TFR2 TRIP6 VGF ZAN ZNF3 ZKSCAN1 ZSCAN21 TRRAP BUD31 PLOD3 AP4M1 ATP5MF MUC12 ARPC1B POP7 ZNHIT1 ARPC1A STAG3 CPSF4 COPS6 PDAP1 ZKSCAN5 CLDN15 BRI3 PTCD1 FBXO24 PILRB PILRA FIS1 ACTL6B SRRT ZCWPW1 TRAPPC14 BAIAP2L1 MEPCE SLC12A9 SMURF1 MOSPD3 GIGYF1 CYP3A43 ZNF655 PVRIG GAL3ST4 OR2AE1 TSC22D4 TRIM56 ZNF394 TRIM4 MUC17 ZSCAN25 FAM200A PPP1R35 GPC2 TMEM130 NYAP1 CNPY4 MBLAC1 ZNF789 MOGAT3 GJC3 NAT16 LAMTOR4 KPNA7 SPACDR UFSP1 MIR106B MIR25 MIR93 SPDYE3 PCOLCE-AS1 TRW-CCA5-1 TMEM225B SAP25 MIR3609 ATP5MF-PTCD1 MIR4653 MIR4658 CYP3A7-CYP3A51P STAG3L5P-PVRIG2P-PILRB LOC101927550 PPP1R35-AS1 MIR6840 MIR6875 MUC12-AS1 LOC105375423 LOC105375429 SLC12A9-AS1 SCARNA28 LOC110366354 LOC110366355 LOC110599591 LOC110599592 LOC111365160 MIR12119 LOC113687174 LOC113687175 LOC113687176 LOC113687177 LOC113748420 LOC116183093 LOC116183094 LOC116183095 LOC120807605 LOC121175352 LOC121175353 LOC121175354 LOC121740692 TSC22D4-C7ORF61 LOC123956184 LOC123956185 LOC123956186 LOC123956187 LOC123956188 LOC123956189 LOC123956190 LOC123956191 LOC126860119 LOC126860120 LOC126860121 LOC126860122 LOC126860123 LOC126860124 LOC126860125 LOC129389830 LOC129389831 LOC129998850 LOC129998851 LOC129998852 LOC129998853 LOC129998854 LOC129998855 LOC129998856 LOC129998857 LOC129998858 LOC129998859 LOC129998860 LOC129998861 LOC129998862 LOC129998863 LOC129998864 LOC129998865 LOC129998866 LOC129998867 LOC129998868 LOC129998869 LOC129998870 LOC129998871 LOC129998872 LOC129998873 LOC129998874 LOC129998875 LOC129998876 LOC129998877 LOC129998878 LOC129998879 LOC129998880 LOC129998881 LOC129998882 LOC129998883 LOC129998884 LOC129998885 LOC129998886 LOC129998887 LOC129998888 LOC129998889 LOC129998890 LOC129998891 LOC129998892 LOC129998893 LOC129998894 LOC129998895 LOC129998896 LOC129998897 LOC129998898 LOC129998899 LOC129998900 LOC129998901 LOC129998902 LOC129998903 LOC129998904 LOC129998905 LOC129998906 LOC129998907 LOC129998908 LOC129998909 LOC129998910 LOC129998911 LOC129998912 LOC129998913 LOC129998914 LOC129998915 LOC129998916 LOC129998917 LOC129998918 LOC129998919 LOC129998920 LOC129998921 LOC129998922 LOC129998923 LOC129998924 LOC129998925 LOC129998926 LOC129998927 LOC129998928 LOC129998929 LOC129998930 LOC129998931 LOC129998932 LOC129998933 LOC129998934 LOC129998935 LOC129998936 LOC129998937 LOC129998938 LOC129998939 LOC129998940 LOC129998941 LOC129998942 LOC129998943 LOC129998944 LOC129998945 LOC129998946 LOC129998947 LOC129998948 LOC129998949 LOC129998950 LOC129998951 LOC129998952 LOC129998953 LOC129998954 LOC129998955 LOC129998956 LOC129998957 LOC129998958 LOC129998959 LOC129998960 LOC129998961 LOC129998962 LOC129998963 LOC129998964 LOC129998965 LOC129998966 LOC129998967 LOC129998968 LOC129998969 LOC129998970 LOC129998971 LOC129998972 LOC129998973 LOC129998974 LOC129998975 LOC129998976 LOC129998977 LOC129998978 LOC129998979 LOC129998980 LOC129998981 LOC129998982 LOC129998983 LOC129998984 LOC129998985 LOC129998986 LOC129998987 LOC129998988 LOC129998989 LOC129998990 LOC129998991 LOC129998992 LOC129998993 LOC129998994 LOC129998995 LOC129998996 LOC129998997 LOC129998998 LOC129998999 LOC129999000 LOC129999001 LOC129999002 LOC129999003 LOC129999004 LOC129999005 LOC129999006 LOC129999007
- Associated Variants
-
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3
GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 7q21.3-22.1(chr7:98288474-101259804)x3 AND See cases
- ClinVar Allele ID
- 74308
- 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/RCV000053573
- Observed Origin Sample
- de novo
Drugs