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Variant : CV165461 (GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2) Homo sapiens

Symbol: CV165461
Name: GRCh38/hg38 Xp22.2-22.12(chrX:12856740-19380317)x2
Condition: See cases [RCV000143774]
Clinical Significance: likely pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   ADGRG2   AP1S2   ASB11   ASB9   ATXN3L   BEND2   BMX   CA5B   CDKL5   CLTRN   CTPS2   EGFL6   FAM9C   FANCB   GEMIN8   GLRA2   GPM6B   GRPR   INE2   LINC01203   LINC01456   LINC02154   MAGEB17   MAP3K15   MIR4768   MIR548AM   MIR6086   MOSPD2   NHS   NHS-AS1   OFD1   PDHA1   PHKA2   PHKA2-AS1   PIGA   PIR   PPEF1   PPEF1-AS1   RAB9A   RAI2   RBBP7   REPS2   RS1   S100G   SCML1   SCML2   SYAP1   TCEANC   TLR7   TLR8   TLR8-AS1   TMSB4X   TRAPPC2   TRV-TAC1-2   TXLNG   VEGFD   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_12856740)_(19380317_?)dup
NC_000023.10:g.(?_12874859)_(19398435_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X12,856,740 - 19,380,317CLINVAR
GRCh37X12,874,859 - 19,398,435CLINVAR
Build 36X12,784,780 - 19,308,356CLINVAR
Cytogenetic MapXXp22.2-22.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491372
Created: 2014-09-09
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.