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Variant : CV622843 (inv(22)(q12.2q12.2)) Homo sapiens

Symbol: CV622843
Name: inv(22)(q12.2q12.2)
Condition: Anaplastic ependymoma [RCV000785873]
Clinical Significance: likely pathogenic
Last Evaluated: 05/21/2019
Review Status: no assertion criteria provided
Related Genes: AP1B1   ASCC2   CABP7   CASTOR1   CCDC157   DUSP18   EWSR1   GAL3ST1   GAS2L1   HORMAD2   INPP5J   LIF   LIMK2   MORC2   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PES1   PIK3IP1   PLA2G3   RASL10A   RFPL1   RFPL1S   RNF185   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SF3A1   SLC35E4   SMTN   TBC1D10A   TCN2   THOC5   TUG1   UQCR10   ZMAT5  
Variant Type: inversion (SO:1000036)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh372229,684,716 - 31,740,655CLINVAR
Cytogenetic Map2222q12.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14695620
Created: 2019-07-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.