Annotation Detail
Information
- Associated Genes
- APLNR SERPING1 CNTF CTNND1 P2RX3 PRG2 SSRP1 SLC43A1 OR5D3P UBE2L6 LPXN GLYAT PRG3 OR5I1 CLP1 ZDHHC5 OR5L2 TIMM10 SLC43A3 TMX2 OR5AL1 ZFP91 OR8J3 OR8J2 OR4P4 OR4C15 OR4A16 OR4A15 OR10W1 TRIM51 TNKS1BP1 GLYATL1 OR8I2 OR8U1 OR4C16 OR4C11 OR4S2 OR4C6 OR5D14 OR5L1 OR5D18 OR5AS1 OR8K5 OR5T2 OR8H1 OR8K3 OR8J1 OR8U3 OR5M3 OR5M8 OR5M11 OR5AR1 LRRC55 SMTNL1 YPEL4 MED19 OR6Q1 OR9I1 OR9Q1 OR9Q2 OR1S2 OR1S1 OR10Q1 OR5B17 OR5B21 GLYATL2 SELENOH OR10AG1 OR5J2 OR9G4 LOC283194 OR5F1 OR5AP2 RTN4RL2 ZFP91-CNTF OR5D13 OR5D16 OR5W2 OR8H2 OR8H3 OR5T3 OR5T1 OR8K1 OR5M9 OR5M10 OR5M1 OR9G1 OR5AK2 OR5B2 OR5B12 MIR130A OR5B3 BTBD18 TMX2-CTNND1 LINC02735 MIR6128 LOC112081401 LOC121392915 LOC121392916 MIR130AHG LOC124489741 LOC124489742 LOC124489743 LOC124489745 LOC126861207 LOC126861208 LOC126861209 LOC126861210 LOC126861211 LOC126861212 LOC126861213 LOC126861214 LOC126861215 LOC129390284 LOC129390285 LOC130005698 LOC130005699 LOC130005700 LOC130005701 LOC130005702 LOC130005703 LOC130005704 LOC130005705 LOC130005706 LOC130005707 LOC130005708 LOC130005709 LOC130005710 LOC130005711 LOC130005712 LOC130005713 LOC130005714 LOC130005715 LOC130005716 LOC130005717 LOC130005718 LOC130005719 LOC130005720 LOC130005721 LOC130005722 LOC130005723 LOC130005724 LOC130005725 LOC130005726 LOC130005727 LOC130005728 LOC130005729 LOC130005730 LOC130005731
- Associated Variants
-
GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3
GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 - Source Database
- ClinVar
- Description
- GRCh38/hg38 11q11-12.1(chr11:55319519-58998777)x3 AND See cases
- ClinVar Allele ID
- 164444
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2010-12-22
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000142757
- Observed Origin Sample
- not provided
Drugs