Annotation Detail
Information
- Associated Genes
- CACNA2D1 CD36 GNAI1 GTF2I HGF HIP1 HSPB1 MDH2 POR PTPN12 CCL24 CLIP2 YWHAG ZP3 GTF2IRD1 MAGI2 CCL26 SEMA3C FGL2 POMZP3 STYXL1 GSAP PHTF2 RHBDD2 CCDC146 RCC1L TMEM120A GTF2IRD2 TMEM60 DTX2 SSC4D SRRM3 RSBN1L GNAT3 TRIM73 GTF2IRD2B SPDYE5 SPDYE14 NCF1 SNORA14A CASTOR2 POM121C SPDYE12 LOC100128317 LINC03009 SPDYE18 APTR MAGI2-AS3 MIR4651 MAGI2-AS2 GTF2I-AS1 LOC101927243 LOC101927269 CACNA2D1-AS1 SPDYE16 SPDYE17 SPDYE13 SPDYE15 LOC105369146 UPK3B DDX3ILA1 LOC106029312 LOC106029313 LOC108228208 LOC108228209 LOC108254673 LOC111413046 MIR10525 LOC113748412 LOC113748413 LOC113748414 LOC116183091 LOC121175347 LOC121175348 LOC121175349 LOC121740687 LOC121740688 LOC123956163 LOC123956164 LOC123956165 LOC123956166 LOC123956167 LOC123956168 LOC123956169 LOC123956170 LOC123956171 LOC123956172 LOC123956173 LOC126860075 LOC126860076 LOC126860077 LOC126860078 LOC126860079 LOC126860080 LOC126860081 LOC126860082 LOC126860083 LOC126860084 LOC126860085 LOC126860086 LOC126860087 FPASL LOC129389814 LOC129389815 LOC129389816 LOC129389817 LOC129389818 LOC129929028 LOC129998641 LOC129998642 LOC129998643 LOC129998644 LOC129998645 LOC129998646 LOC129998647 LOC129998648 LOC129998649 LOC129998650 LOC129998651 LOC129998652 LOC129998653 LOC129998654 LOC129998655 LOC129998656 LOC129998657 LOC129998658 LOC129998659 LOC129998660 LOC129998661 LOC129998662 LOC129998663 LOC129998664 LOC129998665 LOC129998666 LOC129998667 LOC129998668 LOC129998669 LOC129998670 LOC129998671 LOC129998672 LOC129998673 LOC129998674 LOC129998675 LOC129998676 LOC129998677 LOC129998678 LOC129998679 LOC129998680 LOC129998681 LOC129998682 LOC129998683 LOC129998684 LOC129998685 LOC129998686 LOC129998687 LOC129998688 LOC129998689 LOC129998690 LOC129998691 LOC129998692 LOC129998693 LOC129998694 LOC129998695 LOC129998696 LOC129998697 LOC129998698 LOC129998699 LOC129998700 LOC129998701 LOC129998702 LOC129998703 LOC129998704 LOC129998705 LOC129998706 LOC129998707 LOC129998708 LOC129998709 LOC129998710 LOC129998711 LOC129998712 LOC129998713 LOC129998714 LOC129998715 LOC129998716 LOC129998717 LOC129998718 LOC129998719 LOC129998720 LOC129998721 LOC129998722 LOC129998723 LOC129998724 LOC129998725 LOC129998726 LOC132089505 LOC132089506
- Associated Variants
-
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1
GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 - Source Database
- ClinVar
- Description
- GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1 AND See cases
- ClinVar Allele ID
- 164064
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2013-02-04
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000142381
- Observed Origin Sample
- de novo
Drugs