Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV676667 (GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2) Homo sapiens

Symbol: CV676667
Name: GRCh37/hg19 Xp22.2-22.11(chrX:13962918-22148232)x2
Condition: not provided [RCV000849766]
Clinical Significance: pathogenic
Last Evaluated: 10/11/2017
Review Status: no assertion criteria provided
Related Genes: ACE2   ADGRG2   AP1S2   ASB11   ASB9   BCLAF3   BEND2   BMX   CA5B   CDKL5   CLTRN   CNKSR2   CTPS2   EIF1AX   FANCB   GEMIN8   GLRA2   GRPR   INE2   KLHL34   MAGEB17   MAP3K15   MAP7D2   MBTPS2   MOSPD2   NHS   PDHA1   PHEX   PHKA2   PIGA   PIR   PPEF1   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SCML1   SCML2   SH3KBP1   SMPX   SMS   SYAP1   TXLNG   VEGFD   YY2   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X13,962,918 - 22,148,232CLINVAR
Cytogenetic MapXXp22.2-22.11CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14981262
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE



NHLBI Logo

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