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Variant : CV625936 (GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1) Homo sapiens

Symbol: CV625936
Name: GRCh37/hg19 Xp22.33-11.22(chrX:60814-50519984)x1
Condition: See cases [RCV000790583]
Clinical Significance: pathogenic
Last Evaluated: 09/27/2018
Review Status: criteria provided, single submitter
Related Genes: ACE2   ACOT9   ADGRG2   AKAP4   AMELX   ANOS1   AP1S2   APOO   ARAF   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB9   ATP6AP2   ATXN3L   BCLAF3   BCOR   BEND2   BMX   CA5B   CACNA1F   CASK   CBLL2   CCDC120   CCDC22   CCNB3   CDK16   CDKL5   CFAP47   CFP   CHST7   CLCN4   CLCN5   CLTRN   CNKSR2   CTPS2   CXorf21   CXorf38   CXorf58   CYBB   DCAF8L1   DCAF8L2   DDX3X   DDX53   DGKK   DIPK2B   DMD   DUSP21   DYNLT3   EBP   EFHC2   EGFL6   EIF1AX   EIF2S3   ELK1   ERAS   FAM47A   FAM47B   FAM47C   FAM9A   FAM9B   FAM9C   FANCB   FOXP3   FRMPD4   FTHL17   FTHL18   FTSJ1   FUNDC1   GAGE1   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GEMIN8   GK   GLOD5   GLRA2   GPKOW   GPM6B   GPR143   GPR34   GPR82   GRIPAP1   GRPR   GYG2   H2AP   HCCS   HDAC6   IL1RAPL1   INE1   INE2   JADE3   KCND1   KDM6A   KLHL15   KLHL34   KRBOX4   LANCL3   LINC01560   MAGEB1   MAGEB10   MAGEB16   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAGIX   MAOA   MAOB   MAP3K15   MAP7D2   MBTPS2   MED14   MID1   MID1IP1   MIR221   MIR222   MIR502   MIR532   MOSPD2   MPC1L   MSL3   MXRA5   NDP   NDUFB11   NHS   NLGN4X   NR0B1   NYX   OFD1   OTC   OTUD5   PAGE1   PAGE4   PCSK1N   PCYT1B   PDHA1   PDK3   PHEX   PHKA2   PIGA   PIM2   PIR   PLP2   PNPLA4   POLA1   PORCN   PPEF1   PPP1R3F   PQBP1   PRAF2   PRDX4   PRICKLE3   PRKX   PRPS2   PRRG1   PTCHD1   PUDP   RAB9A   RAI2   RBBP7   RBM10   RBM3   REPS2   RGN   RP2   RPGR   RPS6KA3   RS1   S100G   SAT1   SCML1   SCML2   SH3KBP1   SHROOM2   SHROOM4   SLC35A2   SLC38A5   SLC9A7   SMPX   SMS   SPACA5   SPACA5B   SRPX   SSX1   SSX3   SSX4   SSX4B   SSX5   STS   SUPT20HL1   SUPT20HL2   SUV39H1   SYAP1   SYN1   SYP   SYTL5   TAB3   TBC1D25   TBL1X   TCEANC   TFE3   TIMM17B   TIMP1   TLR7   TLR8   TMEM47   TMSB4X   TRAPPC2   TSPAN7   TXLNG   UBA1   USP11   USP27X   USP9X   UXT   VCX   VCX2   VCX3A   VCX3B   VEGFD   WAS   WDR13   WDR45   WWC3   XG   XK   YY2   ZFX   ZNF157   ZNF182   ZNF41   ZNF630   ZNF674   ZNF81   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X60,814 - 50,519,984CLINVAR
Cytogenetic MapXXp22.33-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14698323
Created: 2019-08-06
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.