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Variant : CV436768 (GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1) Homo sapiens

Symbol: CV436768
Name: GRCh37/hg19 Xq21.31-23(chrX:86776682-114054291)x1
Condition: See cases [RCV000511514]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 02/16/2017
Review Status: no assertion criteria provided
Related Genes: ACSL4   ALG13   AMMECR1   AMOT   ARL13A   ARMCX1   ARMCX2   ARMCX3   ARMCX3-AS1   ARMCX4   ARMCX5   ARMCX5-GPRASP2   ARMCX6   ATG4A   BEX1   BEX2   BEX3   BEX4   BEX5   BHLHB9   BTK   CAPN6   CENPI   CHRDL1   CLDN2   COL4A5   COL4A6   CPXCR1   CSTF2   DCX   DIAPH2   DNAAF6   DRP2   ESX1   FAM133A   FAM199X   FRMPD3   GLA   GPRASP1   GPRASP2   GUCY2F   H2BW1   H2BW2   HNRNPH2   HTR2C   IL1RAPL2   IRS4   KCNE5   KLHL4   LHFPL1   MID2   MORC4   MORF4L2   NAP1L3   NOX1   NRK   NUP62CL   NXF2   NXF2B   NXF3   NXF5   NXT2   PABPC5   PAK3   PCDH11X   PCDH19   PLP1   PRPS1   PSMD10   PWWP3B   RAB40A   RAB40AL   RAB9B   RADX   RBM41   RIPPLY1   RNF128   RPA4   RPL36A   RPL36A-HNRNPH2   RTL4   RTL9   SERPINA7   SLC25A53   SRPX2   SYTL4   TAF7L   TBC1D8B   TCEAL1   TCEAL2   TCEAL3   TCEAL4   TCEAL5   TCEAL6   TCEAL7   TCEAL8   TCEAL9   TCP11X2   TEX13A   TEX13B   TGIF2LX   TIMM8A   TMEM164   TMEM31   TMEM35A   TMSB15A   TMSB15B   TNMD   TRMT2B   TRPC5   TRPC5OS   TSC22D3   TSPAN6   VSIG1   XKRX   ZCCHC18   ZMAT1  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X86,776,682 - 114,054,291CLINVAR
Cytogenetic MapXXq21.31-23CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13444485
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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