Annotation Detail
Information
- Associated Genes
- ASIC1 ACVR1B ACVRL1 ADCY6 ABCD2 AMHR2 AQP2 AQP5 AQP6 ARF3 ATF1 ATP5MC2 BICD1 CACNB3 CCNT1 CNTN1 COL2A1 DDX11 EIF4B CELA1 GPD1 NR4A1 HOXC12 HOXC13 IGFBP6 ITGB7 ITPR2 KRT1 KRT2 KRT3 KRT4 KRT5 KRT6A KRT6B KRT7 KRT8 KRT18 KRT81 KRT82 KRT83 KRT84 KRT85 KRT86 LALBA NELL2 SLC11A2 PCBP2 PFDN5 PFKM PKP2 POU6F1 PRKAG1 PRPH PTHLH TWF1 RARG SCN8A SMARCD1 SP1 TARBP2 TMBIM6 TFCP2 VDR WNT1 WNT10B MAP3K12 TUBA1A SSPN KMT2D AAAS SOAT2 PPFIBP1 NPFF ENDOU KRT75 SCAF11 MED21 DDX23 SLC4A8 ESPL1 DAZAP2 TROAP DNM1L YAF2 TUBA1B RAPGEF3 MCRS1 IPO8 ATF7 GALNT6 STK38L FAIM2 DDN TNS2 KCNH3 ANP32D PRPF40B TMT1A LETMD1 FGFR1OP2 RND1 RACGAP1 SENP1 PDZRN4 DHH YARS2 IRAK4 ERGIC2 FKBP11 KRT76 CSAD BIN2 LIMA1 PPHLN1 HDAC7 TM7SF3 SLC38A2 PRR13 KANSL2 SLC38A4 RESF1 CCDC91 KIF21A SLC48A1 FAR2 LMBR1L INTS13 BMAL2 SMAGP KLHL42 DIP2B CALCOCO1 NCKAP5L SINHCAF MYG1 MRPS35 ATG101 SPATS2 CAPRIN2 TMEM106C RPAP3 DNAJC22 ADAMTS20 SLC38A1 CSRNP2 PUS7L TMTC1 FAM186B TMEM117 TUBA1C ALG10 SPRYD3 MFSD5 COX14 ZCRB1 CCDC65 FMNL3 CERS5 PCED1B KRT71 LARP4 SLC2A13 LRRK2 FAM186A RHEBL1 C12orf54 ZNF641 OR10AD1 SP7 KRT74 FGD4 ASB8 KRT72 PRICKLE1 BCDIN3D ALG10B CPNE8 KRT80 DENND5B TAMALIN KRT78 AMN1 ANO6 ARID2 ETFBKMT ZNF740 LINC02874 REDIC1 MUC19 GXYLT1 TMPRSS12 KRT6C KRT73 C1QL4 KRT79 SMCO2 OVCH1 SYT10 ANKRD33 H1-7 OR8S1 AMIGO2 KRT77 REP15 CCDC184 FIGNL2 H3-5 DBX2 TSPAN11 HIGD1C C12orf71 HOTAIR MANSC4 HOXC13-AS
- Associated Variants
- NC_000012.11:g.26370251_54361538inv
- Associated Disease
- not specified
- Source Database
- ClinVar
- Description
- NC_000012.11:g.26370251_54361538inv AND not specified
- ClinVar Allele ID
- 514838
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2018-02-02
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000714265
- ClinVar Disease
- not specified
- Observed Origin Sample
- de novo
Drugs