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Variant : CV435686 (GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2) Homo sapiens

Symbol: CV435686
Name: GRCh37/hg19 Xp22.2-21.2(chrX:15290524-29747172)x2
Condition: See cases [RCV000511443]
Clinical Significance: likely pathogenic
Last Evaluated: 08/05/2015
Review Status: no assertion criteria provided
Related Genes: ACE2   ACOT9   ADGRG2   AP1S2   APOO   ARX   ASB11   BCLAF3   BEND2   BMX   CA5B   CBLL2   CDKL5   CLTRN   CNKSR2   CTPS2   CXorf58   DCAF8L1   DCAF8L2   DDX53   EIF1AX   EIF2S3   GRPR   IL1RAPL1   INE2   KLHL15   KLHL34   MAGEB10   MAGEB17   MAGEB18   MAGEB5   MAGEB6   MAP3K15   MAP7D2   MBTPS2   NHS   PCYT1B   PDHA1   PDK3   PHEX   PHKA2   PIGA   PIR   POLA1   PPEF1   PRDX4   PTCHD1   RAI2   RBBP7   REPS2   RPS6KA3   RS1   S100G   SAT1   SCML1   SCML2   SH3KBP1   SMPX   SMS   SUPT20HL1   SUPT20HL2   SYAP1   TXLNG   VEGFD   YY2   ZFX   ZRSR2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X15,290,524 - 29,747,172CLINVAR
Cytogenetic MapXXp22.2-21.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444415
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-09-06
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.