Annotation Detail
Information
- Associated Genes
- ERCC8 GZMA GZMK IL6ST ISL1 ITGA1 ITGA2 KIF2A MAP3K1 MOCS2 NDUFS4 PDE4D PLPP1 HSPB3 CCNO FST PLK2 ESM1 MTREX PART1 DIMT1 IPO11 PELO DHX29 DDX4 ARL15 DEPDC1B ZSWIM6 GPBP1 PARP8 ANKRD55 ELOVL7 NDUFAF2 SNX18 RAB3C SETD9 IL31RA EMB SLC38A9 MIER3 CDC20B GAPT MOCS2-DT LINC03122 MCIDAS ACTBL2 IL6ST-DT GPX8 MIR449A ISL1-DT SMIM15 MIR449B MIR581 MIR582 LRRC70 LINC02106 MIR449C LINC03123 MIR548AE2 MIR5687 LNCBRM IPO11-LRRC70 C5orf67 LOC101928505 LINC02225 LINC02101 LINC02108 SMIM15-AS1 LOC101928651 LINC02998 LOC102467081 LINC01948 RMEL3 LINC01033 LINC02118 LINC02105 LOC105378979 ERCC8-AS1 LINC02057 LOC105378997 LOC106029242 CREST1 CREST2 CREST3 LOC108281172 LOC109286569 LOC110120697 LOC110120712 LOC110121020 LOC110121055 LOC110121170 LOC111365172 LOC111365215 LOC111556121 LOC112997594 LOC112997595 LOC112997596 LOC113002585 LOC114004394 LOC116158515 LOC116158516 LOC116158517 LOC116158518 CCNO-DT LOC121056765 LOC121056766 ITGA2-AS1 LOC123493304 LOC123493305 LOC123493306 LOC123493307 LOC123493308 LOC123493309 LOC123493310 LOC123493311 LOC123493312 LOC123493313 LOC123493314 LOC123493315 LOC123493316 LOC123493317 LOC123493318 LOC123493319 LOC123493320 LOC123493321 LOC123493322 LOC123493323 PELO-AS1 LOC126807383 LOC126807384 LOC126807385 LOC126807386 LOC126807387 LOC126807388 LOC126807389 LOC126807390 LOC126807391 LOC126807392 LOC126807393 LOC126807394 LOC126807395 LOC126807396 LOC126807397 LOC126807398 LOC126807399 LOC126807400 LOC126807401 LOC126807402 LOC126807403 LOC126807404 LOC126807405 LOC126807406 LOC126807407 LOC127402905 LOC128462395 LOC129389282 LOC129389283 LOC129389284 LOC129389285 LOC129389286 LOC129389287 LOC129389288 LOC129389289 LOC129389290 LOC129993872 LOC129993873 LOC129993874 LOC129993875 LOC129993876 LOC129993877 LOC129993878 LOC129993879 LOC129993880 LOC129993881 LOC129993882 LOC129993883 LOC129993884 LOC129993885 LOC129993886 LOC129993887 LOC129993888 LOC129993889 LOC129993890 LOC129993891 LOC129993892 LOC129993893 LOC129993894 LOC129993895 LOC129993896 LOC129993897 LOC129993898 LOC129993899 LOC129993900 LOC129993901 LOC129993902 LOC129993903 LOC129993904 LOC129993905 LOC129993906 LOC129993907 LOC129993908 LOC129993909 LOC129993910 LOC129993911 LOC129993912 LOC129993913 LOC129993914 LOC129993915 LOC129993916 LOC129993917 LOC129993918 LOC129993919 LOC129993920 LOC129993921 LOC129993922 LOC129993923 LOC129993924 LOC129993925 LOC129993926 LOC129993927 LOC129993928 LOC129993929 LOC129993930 LOC129993931 LOC129993932 LOC129993933 LOC129993934 LOC129993935 LOC129993936 LOC129993937 LOC129993938 LOC129993939 LOC129993940 LOC129993941 LOC129993942 LOC129993943 LOC129993944 LOC129993945 LOC129993946 LOC129993947 LOC129993948 LOC129993949 LOC129993950 LOC129993951 LOC129993952 LOC129993953 LOC129993954 LOC129993955 LOC129993956 LOC129993957 LOC129993958 LOC129993959 LOC129993960 LOC129993961 LOC129993962 LOC129993963 LOC129993964 LOC132089276 LOC132089277 LOC132089278 LOC132089279 LOC132089280 LOC132089281 LOC132089282 LOC132089283 LOC132089284 LOC132089285 LOC132089286 LOC132089287 LOC132089288 LOC132090731
- Associated Variants
-
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1
GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 5q11.1-12.1(chr5:50288355-63149770)x1 AND See cases
- ClinVar Allele ID
- 71744
- 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/RCV000050797
- Observed Origin Sample
- de novo
Drugs