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Variant : CV155269 (GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2) Homo sapiens

Symbol: CV155269
Name: GRCh38/hg38 Xp22.2-22.11(chrX:15173626-23952585)x2
Condition: See cases [RCV000134875]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACE2   ACOT9   ADGRG2   AP1S2   APOO   ASB11   ASB9   BCLAF3   BEND2   BMX   CA5B   CBLL2   CDKL5   CLTRN   CNKSR2   CTPS2   CXorf58   DDX53   EIF1AX   EIF1AX-AS1   GRPR   INE2   KLHL34   LINC01456   MAGEB17   MAP3K15   MAP7D2   MBTPS2   MIR23C   MIR4768   MIR548AM   NHS   NHS-AS1   PDHA1   PHEX   PHEX-AS1   PHKA2   PHKA2-AS1   PIGA   PIR   PPEF1   PPEF1-AS1   PRDX4   PTCHD1   PTCHD1-AS   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SAT1   SCARNA9L   SCML1   SCML2   SH3KBP1   SMPX   SMS   SYAP1   TRV-TAC1-2   TXLNG   VEGFD   YY2   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_15173626)_(23952585_?)dup
NC_000023.10:g.(?_15191748)_(23970702_?)dup
NC_000023.9:g.(?_15101669)_(23880623_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X15,173,626 - 23,952,585CLINVAR
GRCh37X15,191,748 - 23,970,702CLINVAR
Build 36X15,101,669 - 23,880,623CLINVAR
Cytogenetic MapXXp22.2-22.11CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482450
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.