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Variant : CV613944 (GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)) Homo sapiens

Symbol: CV613944
Name: GRCh37/hg19 Xp11.3-11.23(chrX:43507300-48929622)
Condition: not provided [RCV000767648]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: ARAF   CCDC120   CDK16   CFP   CHST7   DIPK2B   DUSP21   EBP   EFHC2   ELK1   ERAS   FTSJ1   FUNDC1   GATA1   GLOD5   GRIPAP1   HDAC6   INE1   JADE3   KCND1   KDM6A   KRBOX4   LINC01560   MAOA   MAOB   MIR221   MIR222   NDP   NDUFB11   OTUD5   PCSK1N   PIM2   PORCN   PQBP1   PRAF2   RBM10   RBM3   RGN   RP2   SLC35A2   SLC38A5   SLC9A7   SPACA5   SPACA5B   SSX1   SSX3   SSX4   SSX4B   SSX5   SUV39H1   SYN1   TBC1D25   TFE3   TIMM17B   TIMP1   UBA1   USP11   UXT   WAS   WDR13   ZNF157   ZNF182   ZNF41   ZNF630   ZNF674   ZNF81  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37X43,507,300 - 48,929,622CLINVAR
Cytogenetic MapXXp11.3-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14399411
Created: 2019-05-07
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.