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Variant : CV155373 (GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3) Homo sapiens

Symbol: CV155373
Name: GRCh38/hg38 Xp11.3-11.22(chrX:43361870-50931794)x3
Condition: See cases [RCV000134956]
Clinical Significance: pathogenic
Last Evaluated: 01/24/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AKAP4   ARAF   BMP15   CACNA1F   CCDC120   CCDC22   CCNB3   CDK16   CFP   CHST7   CLCN5   DGKK   DIPK2B   DUSP21   EBP   EFHC2   ELK1   ERAS   FLICR   FOXP3   FTSJ1   FUNDC1   GAGE1   GAGE10   GAGE12B   GAGE12C   GAGE12D   GAGE12E   GAGE12F   GAGE12G   GAGE12H   GAGE12I   GAGE12J   GAGE13   GAGE2A   GAGE2B   GAGE2C   GAGE2D   GAGE2E   GAGE8   GATA1   GLOD5   GPKOW   GRIPAP1   HDAC6   INE1   JADE3   KCND1   KDM6A   KRBOX4   LINC01186   LINC01204   LINC01545   LINC01560   LINC02595   MAGIX   MAOA   MAOB   MIR188   MIR221   MIR222   MIR362   MIR4769   MIR500A   MIR500B   MIR501   MIR502   MIR532   MIR660   NDP   NDP-AS1   NDUFB11   OTUD5   PAGE1   PAGE4   PCSK1N   PIM2   PLP2   PORCN   PPP1R3F   PQBP1   PRAF2   PRICKLE3   RBM10   RBM3   RGN   RP2   SHROOM4   SLC35A2   SLC38A5   SLC9A7   SNORA11C   SPACA5   SPACA5B   SSX1   SSX3   SSX4   SSX4B   SSX5   SUV39H1   SYN1   SYP   SYP-AS1   TBC1D25   TFE3   TIMM17B   TIMP1   UBA1   USP11   USP27X   USP27X-AS1   UXT   UXT-AS1   WAS   WDR13   WDR45   ZNF157   ZNF182   ZNF41   ZNF630   ZNF630-AS1   ZNF674   ZNF674-AS1   ZNF81  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_43361870)_(50931794_?)dup
NC_000023.10:g.(?_43221119)_(50674794_?)dup
NC_000023.9:g.(?_43106063)_(50691534_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X43,361,870 - 50,931,794CLINVAR
GRCh37X43,221,119 - 50,674,794CLINVAR
Build 36X43,106,063 - 50,691,534CLINVAR
Cytogenetic MapXXp11.3-11.22CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482529
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-09-10
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.