Annotation Detail

Information
Associated Genes
ADH1A ADH1B ADH1C ADH4 ADH5 ADH6 ADH7 AFM AFP ALB AMBN ANK2 ANXA3 ANXA5 AREG ART3 ATOH1 BMP3 BMPR1B BTC CAMK2D CASP6 CCNA2 CCNG2 SCARB2 CDS1 CLGN CENPC CENPE CSN1S1 CSN2 CSN3 DCK DMP1 DSPP EGF EIF4E ELF2 ENPEP EPHA5 EREG FABP2 FGF2 FGF5 GC GK2 GNRHR GRID2 CXCL1 CXCL2 CXCL3 GRSF1 H2AZ1 HADH HNRNPD HTN1 HTN3 IBSP CFI IGFBP7 JCHAIN IL2 CXCL8 IL15 CXCL10 KDR KIT MAD2L1 MANBA MGST2 CXCL9 AFF1 MTTP MUC7 NDUFC1 NFKB1 NKX6-1 PDGFRA PDHA2 PF4 PF4V1 PITX2 PKD2 EXOSC9 POLR2B PPEF2 PPAT PPBP PPP3CA PRKG2 MAPK10 PTPN13 RAP1GDS1 REST RPL34 CXCL6 CXCL11 CXCL5 SGCB SNCA SPINK2 SPP1 SRP72 STATH SULT1E1 TACR3 TRPC3 UBE2D3 UCP1 UGT2B4 UGT2B7 UGT2B10 UGT2B15 UGT2B17 UGT8 SPARCL1 PRSS12 USO1 UNC5C LAMTOR3 PDE5A SLC4A4 INPP4B HERC3 STBD1 CDKL2 PAPSS1 AIMP1 NDST3 TMPRSS11D ABCG2 ADAMTS3 CLOCK CEP135 SEC24D G3BP2 HNRNPDL TSPAN5 ENAM FAM13A SPRY1 PGRMC2 SEC24B CXCL13 PAICS PDLIM5 RRH UGT2B11 PLK4 HPSE NMU SMR3B NPFFR2 UGT2A1 CCNI PRDM5 NUDT6 HSPA4L SEC31A RUFY3 MMRN1 WDFY3 TBC1D9 METAP1 ADGRL3 SLC7A11 NOCT PARM1 RCHY1 ANKRD17 STAP1 CHIC2 SMR3A PPA2 DAPP1 DKK2 INTU NAAA COQ2 SULT1B1 HPGDS ZNF330 TMPRSS11E MRPS18C COPS4 HSD17B11 LEF1 HERC5 PLAC8 LARP7 EMCN MYOZ2 NUDT9 NUP54 GAR1 UGT2B28 PCDH18 USP53 TET2 ARHGEF38 ODAM HERC6 MCUB BANK1 LARP1B SDAD1 BBS7 UBA6 ZGRF1 AP1AR MAML3 BMP2K SEPTIN11 EXOC1 TMEM165 BDH2 SMARCAD1 MEPE PRDM8 UTP3 INTS12 ANKRD50 DANCR CRACD RNF150 KLHL8 PCDH10 SHROOM3 METTL14 ENOPH1 OPRPN OSTC IL21 SCOC NEUROG2 SLC39A8 NDST4 ETNPPL USP46 MRPL1 RASL11B ELOVL6 NDNF FAT4 ARSJ SRD5A3 THAP9 UGT2A3 GSTCD TNIP3 JADE1 SCD5 DNAJB14 FRAS1 NAA15 ABHD18 ALPK1 CXXC4 SETD7 PLA2G12A FIP1L1 SLC25A31 RAB33B ARHGAP24 C4orf17 QRFPR ABRAXAS1 BLTP1 NOA1 HOPX COL25A1 LNX1 MGARP NAA11 GPAT3 PIGY CABS1 YTHDC1 MOB1B TIFA TRMT10A TBCK HELQ CYP2U1 DDIT4L PCAT4 ANTXR2 SCLT1 C4orf33 SMIM43 PABPC4L ADAD1 LIN54 SPATA18 FAM241A TMPRSS11B ARL9 AASDH PDCL2 C4orf36 TRAM1L1 SLC9B2 SLC9B1 PAQR3 SCFD2 MGAT4D THAP6 ODAPH PPM1K RASGEF1B AFG2A BBS12 TIGD2 RASSF6 SGMS2 GSX2 SYNPO2 CNOT6L TECRL CFAP299 EPGN ELMOD2 NPNT MFSD8 FDCSP NAP1L5 FAM13A-AS1 GPRIN3 COX18 STPG2 CCDC158 TMPRSS11A LRRC66 SOWAHB LRIT3 SLC10A6 HSD17B13 TMPRSS11F PRR27 AMTN CCSER1 C4orf3 MIR302A MTHFD2L TMEM150C MIR302B MIR302C MIR302D MIR367 CISD2 UGT2A2 SNORA26 SNHG8 FAM47E ERVMER34-1 SPMAP2L GIMD1 SEC24B-AS1 MIR4449 FAM47E-STBD1 PYURF
Associated Variants
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3
Associated Disease
not provided
Source Database
ClinVar
Description
GRCh37/hg19 4q12-31.21(chr4:52866944-143582507)x3 AND not provided
ClinVar Allele ID
1331496
Clinical Significance Description
Pathogenic
Clinical Significance Last Update
2021-04-01
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV001827738
ClinVar Disease
not provided
Observed Origin Sample
germline
Drugs