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Variant : CV539460 (GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1) Homo sapiens

Symbol: CV539460
Name: GRCh37/hg19 11q24.2-25(chr11:125937383-134934063)x1
Condition: See cases [RCV000663397]
Clinical Significance: pathogenic
Last Evaluated: 11/15/2017
Review Status: criteria provided, single submitter
Related Genes: ACAD8   ADAMTS15   ADAMTS8   AP001993.1   APLP2   ARHGAP32   B3GAT1   BARX2   C11orf45   DCPS   ETS1   FAM118B   FLI1   FOXRED1   GLB1L2   GLB1L3   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   LINC02714   LINC02743   LINC02873   NCAPD3   NFRKB   NTM   OPCML   PRDM10   RPUSD4   SNX19   SPATA19   SRPRA   ST14   ST3GAL4   THYN1   TIRAP   TMEM45B   TP53AIP1   VPS26B   ZBTB44  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3711125,937,383 - 134,934,063CLINVAR
Cytogenetic Map1111q24.2-25CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 13704137
Created: 2018-08-07
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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