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Variant : CV247937 (GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1) Homo sapiens

Symbol: CV247937
Name: GRCh37/hg19 Xp22.33-21.1(chrX:71267-35809046)x1
Condition: See cases [RCV000240335]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ACE2   ACOT9   ADGRG2   AMELX   ANOS1   AP1S2   APOO   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ARX   ASB11   ASB9   ATXN3L   BCLAF3   BEND2   BMX   CA5B   CBLL2   CDKL5   CLCN4   CLTRN   CNKSR2   CTPS2   CXorf21   CXorf58   DCAF8L1   DCAF8L2   DDX53   DMD   EGFL6   EIF1AX   EIF2S3   FAM47A   FAM47B   FAM9A   FAM9B   FAM9C   FANCB   FRMPD4   FTHL17   GEMIN8   GK   GLRA2   GPM6B   GPR143   GRPR   GYG2   HCCS   IL1RAPL1   INE2   KLHL15   KLHL34   MAGEB1   MAGEB10   MAGEB17   MAGEB18   MAGEB2   MAGEB3   MAGEB4   MAGEB5   MAGEB6   MAP3K15   MAP7D2   MBTPS2   MID1   MOSPD2   MSL3   MXRA5   NHS   NLGN4X   NR0B1   OFD1   PCYT1B   PDHA1   PDK3   PHEX   PHKA2   PIGA   PIR   PNPLA4   POLA1   PPEF1   PRDX4   PRKX   PRPS2   PTCHD1   PUDP   RAB9A   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SAT1   SCML1   SCML2   SH3KBP1   SHROOM2   SMPX   SMS   STS   SUPT20HL1   SUPT20HL2   SYAP1   TAB3   TBL1X   TCEANC   TLR7   TLR8   TMEM47   TMSB4X   TRAPPC2   TXLNG   VCX   VCX2   VCX3A   VCX3B   VEGFD   WWC3   XG   YY2   ZFX   ZRSR2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X71,267 - 35,809,046CLINVAR
Cytogenetic MapXXp22.33-21.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541748
Created: 2016-10-11
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.