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Variant : CV556061 (GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2) Homo sapiens

Symbol: CV556061
Name: GRCh37/hg19 Xq22.2(chrX:102718261-103490112)x2
Condition: not provided [RCV000684366]
Clinical Significance: pathogenic
Last Evaluated: 07/31/2017
Review Status: no assertion criteria provided
Related Genes: FAM199X   H2BW1   H2BW2   MORF4L2   PLP1   RAB40A   RAB9B   SLC25A53   TCEAL1   TCEAL3   TCEAL4   TMEM31   TMSB15B   ZCCHC18  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X102,718,261 - 103,490,112CLINVAR
Cytogenetic MapXXq22.2CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13798598
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-03-31
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.