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Variant : CV674533 (GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2) Homo sapiens

Symbol: CV674533
Name: GRCh37/hg19 Xp22.33-22.2(chrX:2703632-14129100)x2
Condition: not provided [RCV000847649]
Clinical Significance: pathogenic
Last Evaluated: 08/28/2018
Review Status: no assertion criteria provided
Related Genes: AMELX   ANOS1   ARHGAP6   ARSD   ARSD-AS1   ARSF   ARSH   ARSL   ATXN3L   CLCN4   EGFL6   FAM9A   FAM9B   FAM9C   FRMPD4   GEMIN8   GPM6B   GPR143   GYG2   HCCS   MID1   MSL3   MXRA5   NLGN4X   OFD1   PNPLA4   PRKX   PRPS2   PUDP   RAB9A   SHROOM2   STS   TBL1X   TCEANC   TLR7   TLR8   TMSB4X   TRAPPC2   VCX   VCX2   VCX3A   VCX3B   WWC3   XG  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X2,703,632 - 14,129,100CLINVAR
Cytogenetic MapXXp22.33-22.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14976414
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2019-11-12
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.