Annotation Detail
Information
- Associated Genes
- ADGRE5 DNAJB1 NDUFB7 NOTCH3 PRKACA PKN1 PTGER1 RFX1 SLC1A6 IL27RA TECR DDX39A AKAP8 GIPC1 ILVBL ADGRL1 BRD4 CASP14 OR7A17 OR7C2 OR7A5 OR7C1 C19orf53 ADGRE2 CC2D1A ASF1B ZSWIM4 BRME1 EPHX3 PODNL1 YJU2B MRI1 ZNF333 ADGRE3 SYDE1 SAMD1 DCAF15 MISP3 RLN3 OR1I1 TEKTL1 MIR23AHG NANOS3 PALM3 CLEC17A OR7A10 MIR181C MIR23A MIR24-2 MIR27A MIR181D C19orf67 MIR639 ADGRL1-AS1 LINC01842 MIR6795 MIR1199 LINC01841 SNORA104 LOC112543461 LOC113939968 LOC116276504 LOC116276505 LOC116276506 ILVBL-AS1 LOC121627856 LOC121627857 LOC121627858 LOC121852981 LOC125371482 LOC125371483 LOC125371484 LOC126862867 LOC126862868 LOC126862869 LOC126862870 SMIM46 LOC129391067 LOC129391068 LOC129391069 LOC129391070 LOC129391071 LOC129391072 LOC129391073 LOC129391074 LOC130063722 LOC130063723 LOC130063724 LOC130063725 LOC130063726 LOC130063727 LOC130063728 LOC130063729 LOC130063730 LOC130063731 LOC130063732 LOC130063733 LOC130063734 LOC130063735 LOC130063736 LOC130063737 LOC130063738 LOC130063739 LOC130063740 LOC130063741 LOC130063742 LOC130063743 LOC130063744 LOC130063745 LOC130063746 LOC130063747 LOC130063748 LOC130063749 LOC130063750 LOC130063751 LOC130063752 LOC130063753 LOC130063754 LOC130063755 LOC130063756 LOC130063757 LOC130063758 LOC130063759 LOC130063760 LOC130063761 LOC130063762 LOC130063763 LOC130063764 LOC130063765 LOC130063766 LOC130063767 LOC130063768 LOC130063769 LOC130063770 LOC130063771 LOC130063772 LOC130063773 LOC130063774 LOC130063775 LOC130063776 LOC130063777 LOC130063778 LOC130063779 LOC130063780 LOC130063781 LOC130063782 LOC130063783 LOC130063784 LOC130063785 LOC130063786 LOC130063787 LOC130063788 LOC130063789 LOC130063790 LOC130063791 LOC130063792 LOC130063793 LOC130063794 LOC130063795 LOC130063796 LOC130063797 LOC130063798 LOC130063799 LOC130063800 LOC130063801 LOC130063802 LOC130063803 LOC130063804 LOC130063805 LOC130063806 LOC130063807 LOC130063808 LOC130063809 LOC130063810 LOC130063811 LOC130063812 LOC130063813 LOC130063814 LOC130063815 LOC130063816 LOC130063817 LOC130063818
- Associated Variants
-
GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1
GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 19p13.13-13.12(chr19:13533925-15371089)x1 AND See cases
- ClinVar Allele ID
- 157035
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2011-09-16
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000136502
- Observed Origin Sample
- de novo
Drugs