Annotation Detail
Information
- Associated Genes
- ACTC1 CHRM5 MEIS2 RYR3 SCG5 AQR ARHGAP11A SLC12A6 RASGRP1 GOLGA8A GREM1 EMC4 ZNF770 NOP10 EMC7 AVEN GJD2 KATNBL1 CDIN1 DPH6 LOC145845 TMCO5A SPRED1 PGBD4 LPCAT4 NUTM1 FAM98B FMN1 NANOGP8 LINC02694 LINC02915 GOLGA8B GOLGA8N GOLGA8K GOLGA8O GREM1-AS1 MIR1233-1 MIR1233-2 MIR3942 DPH6-DT LINC02853 MIR4510 LINC02256 ARHGAP11A-DT RYR3-DT GJD2-DT LINC02345 MIR8063 SCG5-AS1 LINC02252 LOC105370764 LOC105370781 LOC106736469 LOC106736481 LINC01852 LOC108004527 LOC110120842 LOC110120858 LOC110120896 LOC110120905 LOC110120936 LOC110120937 LOC112272583 LOC113939943 ARHGAP11A-SCG5 LOC121530575 LOC121530576 LOC121530577 LOC125078054 LOC125078055 LOC125078056 LOC125078057 LOC125078058 LOC125078059 LOC126862090 LOC126862091 LOC126862092 LOC126862093 LOC126862094 LOC126862095 LOC126862096 LOC126862097 LOC126862098 LOC126862099 LOC126862100 LOC126862101 LOC126862102 LOC126862103 LOC126862104 LOC126862105 LOC126862106 LOC126862107 LOC126862108 LOC126862109 LOC129390682 LOC129390683 LOC129390684 LOC129390685 LOC130056728 LOC130056729 LOC130056730 LOC130056731 LOC130056732 LOC130056733 LOC130056734 LOC130056735 LOC130056736 LOC130056737 LOC130056738 LOC130056739 LOC130056740 LOC130056741 LOC130056742 LOC130056743 LOC130056744 LOC130056745 LOC130056746 LOC130056747 LOC130056748 LOC130056749 LOC130056750 LOC130056751 LOC130056752 LOC130056753 LOC130056754 LOC130056755 LOC130056756 LOC130056757 LOC130056758 LOC130056759 LOC130056760 LOC130056761 LOC130056762 LOC130056763 LOC130056764 LOC130056765 LOC130056766 LOC130056767 LOC130056768 LOC130056769 LOC130056770 LOC130056771 LOC130056772 LOC130056773 LOC130056774 LOC130056775 LOC130056776 LOC130056777 LOC130056778 LOC130056779 LOC130056780 LOC130056781 LOC130056782 LOC130056783 LOC130056784 LOC130056785 LOC130056786 LOC130056787 LOC130056788 LOC130056789 LOC130056790 LOC130056791 LOC130056792 LOC130056793 LOC130056794 LOC130056795 LOC130056796 LOC130056797 LOC130056798 LOC130056799 LOC130056800 LOC130056801 LOC130056802 LOC130056803 LOC130056804 LOC130056805 LOC130056806 LOC132090300 LOC132090301 LOC132090302
- Associated Variants
-
GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1
GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 15q13.3-14(chr15:32326136-39394068)x1 AND See cases
- ClinVar Allele ID
- 72471
- 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/RCV000051616
- Observed Origin Sample
- not provided
Drugs