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Variant : CV383235 (GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2) Homo sapiens

Symbol: CV383235
Name: GRCh37/hg19 Xq22.2-23(chrX:103158718-111556067)x2
Condition: See cases [RCV000448592]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ACSL4   ALG13   AMMECR1   ATG4A   CAPN6   CHRDL1   CLDN2   COL4A5   COL4A6   DCX   ESX1   FAM199X   FRMPD3   GUCY2F   H2BW1   H2BW2   IL1RAPL2   IRS4   KCNE5   MID2   MORC4   NRK   NUP62CL   NXT2   PAK3   PIH1D3   PRPS1   PSMD10   PWWP3B   RADX   RBM41   RIPPLY1   RNF128   RTL4   RTL9   SERPINA7   SLC25A53   TBC1D8B   TEX13A   TEX13B   TMEM164   TMSB15B   TRPC5   TRPC5OS   TSC22D3   VSIG1   ZCCHC18  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37X103,158,718 - 111,556,067CLINVAR
Cytogenetic MapXXq22.2-23CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12853298
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2019-10-15
Status: ACTIVE


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