Annotation Detail
Information
- Associated Genes
- ADRA1D JAG1 AVP BFSP1 BMP2 ENTPD6 CDC25B CENPB CHGB CSNK2A1 CST1 CST2 CST3 CST4 CST5 FKBP1A GNRH2 FOXA2 IDH3B INSM1 ITPA NKX2-2 OXT PAX1 PCNA PCSK2 PDYN PLCB4 PRNP PTPRA PYGB RRBP1 SIGLEC1 SNAP25 SNRPB SNRPB2 SOX12 SSTR4 TCF15 TGM3 THBD ZNF133 MKKS ATRN CST7 CDS2 PSMF1 SNPH LZTS3 RASSF2 GINS1 SLC23A2 CST8 SIRPB1 SEC23B NOP56 RBCK1 POLR3F RBBP9 DSTN RNF24 XRN2 UBOX5 BTBD3 CD93 NINL PLCB1 PRND FLRT3 LAMP5 SPEF1 DNAAF9 CFAP61 ABHD12 ZNF337 SDCBP2 SNX5 TMEM230 NXT1 VSX1 NAA20 CRNKL1 ANGPT4 ESF1 TRMT6 HAO1 RIN2 SMOX CRLS1 ADISSP DZANK1 SPTLC3 AP5S1 TMEM74B SIRPG FERMT1 KIF16B TASP1 KIZ NSFL1C TMX4 GPCPD1 CPXM1 OTOR APMAP PAK5 RALGAPA2 KAT14 SLC24A3 MAVS EBF4 TRIB3 OVOL2 FASTKD5 NAPB ANKEF1 GFRA4 GZF1 VPS16 PCED1A MRPS26 DDRGK1 NDUFAF5 ZNF343 SYNDIG1 NRSN2 PANK2 ADAM33 SEL1L2 DEFB126 FAM110A SLC4A11 MCM8 ACSS1 ZCCHC3 SCRT2 GGTLC1 MGME1 DTD1 SLC52A3 HSPA12B TMC2 TBC1D20 SIRPD C20orf141 PROKR2 SLX4IP CSTL1 CST9L CST9 C20orf96 MACROD2 SRXN1 BANF2 NANP DEFB127 SCP2D1 ISM1 CST11 DEFB129 SIRPA STK35 SHLD1 LRRN4 DEFB125 DEFB128 SIRPB2 RSPO4 TGM6 DEFB132 C20orf202 MIR103A2 RAD21L1 NKX2-4 SCP2D1-AS1 TMEM239 MIR1292 PCNA-AS1 PET117
- Associated Variants
- GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3
- Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- GRCh37/hg19 20p13-11.1(chr20:61568-26305479)x3 AND not provided
- ClinVar Allele ID
- 804310
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-02-05
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001007068
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs