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Variant : CV614098 (GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)) Homo sapiens

Symbol: CV614098
Name: GRCh37/hg19 Xp22.33-22.11(chrX:801301-23768392)
Condition: not provided [RCV000767802]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ACE2   ACOT9   ADGRG2   AMELX   ANOS1   AP1S2   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ASB11   ASB9   ATXN3L   BCLAF3   BEND2   BMX   CA5B   CBLL2   CDKL5   CLCN4   CLTRN   CNKSR2   CTPS2   DDX53   EGFL6   EIF1AX   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   GEMIN8   GLRA2   GPM6B   GPR143   GRPR   GYG2   HCCS   INE2   KLHL34   MAGEB17   MAP3K15   MAP7D2   MBTPS2   MID1   MOSPD2   MSL3   MXRA5   NHS   NLGN4X   OFD1   PDHA1   PHEX   PHKA2   PIGA   PIR   PNPLA4   PPEF1   PRDX4   PRKX   PRPS2   PTCHD1   PUDP   RAB9A   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SCML1   SCML2   SH3KBP1   SHROOM2   SMPX   SMS   STS   SYAP1   TBL1X   TCEANC   TLR7   TLR8   TMSB4X   TRAPPC2   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   YY2   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X801,301 - 23,768,392CLINVAR
Cytogenetic MapXXp22.33-22.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399419
Created: 2019-05-07
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.