Annotation Detail
Information
- Associated Genes
- ACTA1 ACTN2 PARP1 ADSS2 AGT ARF1 ATF3 CAPN2 CENPF CHML LYST CHRM3 EPHX1 EPRS1 ESRRG FH GALNT2 GNG4 GUK1 H3-3A HLX HNRNPU ITPKB KCNH1 KCNK1 KCNK2 LBR LGALS8 MARK1 MTR NEK2 NID1 NVL PPP2R5A PROX1 PSEN2 PTPN14 RAB4A RGS7 RYR2 SRP9 TARBP1 TBCE TGFB2 LEFTY2 TLR5 GPR137B TP53BP2 TRAF5 TSNAX USH2A WNT9A ZNF124 SLC30A1 H3-4 GNPAT CDC42BPA DEGS1 KMO TAF1A EXO1 GGPS1 TMEM63A TOMM20 URB2 CEP170 LPGAT1 AKT3 BPNT1 ZBTB18 LEFTY1 CAPN9 SDCCAG8 DUSP10 COG2 RBM34 FBXO28 ABCB10 OPN3 RAB3GAP2 TRIM58 INTS7 AHCTF1 NSL1 OR1C1 OR2M4 OR2L2 OR2T1 RPS6KC1 TAF5L DISC2 DISC1 FLVCR1 CNIH4 PYCR2 NENF RRP15 DESI2 SCCPDH TRIM17 KCTD3 DTL ARID4B EGLN1 MAP10 MTARC2 SUSD4 KIF26B GPATCH2 HEATR1 PACC1 BATF3 SLC30A10 ZNF692 IARS2 HHAT ENAH NUP133 RCOR3 SERTAD4 ERO1B FMN2 SMYD2 COQ8A ZNF695 GJC2 SIPA1L2 ZP4 RHOU TFB2M GREM2 ACBD3 SMYD3 MTARC1 ARV1 AIDA JMJD4 C1orf35 TTC13 PGBD5 C1orf115 HHIPL2 VASH2 ZNF669 ZNF672 PCNX2 WDR26 SH3BP5L OR2L5 OR2G3 OR2G2 OR2C3 TRIM11 MIXL1 SPRTN OBSCN NTPCR EFCAB2 MAP3K21 ZNF496 C1orf198 DISP1 WNT3A ANGEL2 H2AC25 ZNF670 NLRP3 COX20 SNAP47 CCSAP LYPLAL1 OR2M5 OR2M3 OR2T12 OR14C36 OR2T34 OR2T10 OR2T4 OR2T11 DNAH14 OR2B11 WDR64 C1orf131 SPATA17 EDARADD MRPL55 H2BC26 TATDN3 BROX SLC35F3 B3GALNT2 GCSAML CNIH3 EXOC8 RNF187 SPATA45 GARIN4 SDE2 CNST CCDC185 PLD5 SPMIP3 IBA57 OR2T6 SYT14 CATSPERE PGBD2 OR2L13 OR14A16 LIN9 VN1R5 ZNF678 PRSS38 RD3 OR6F1 OR2W3 OR2T8 OR2T3 OR2T29 IRF2BP2 MIA3 STUM FAM89A CAPN8 COA6 LINC02897 OR11L1 OR2L8 OR2AK2 OR2L3 OR2M2 OR2T33 OR2M7 OR2G6 FAM177B OR2T2 OR2T5 OR14I1 OR2T27 OR2T35 MIR194-1 MIR215 TRIM67 MAP1LC3C OR13G1 FLVCR1-DT MT1HL1 LYPD8 BTNL10P LINC00538 LNCATV
- Associated Variants
- GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3
- Source Database
- ClinVar
- Description
- GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3 AND See cases
- ClinVar Allele ID
- 917703
- Clinical Significance Description
- Pathogenic
- Clinical Significance Last Update
- 2019-12-18
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001194578
- Observed Origin Sample
- unknown
Drugs