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Variant : CV383770 (GRCh37/hg19 22q12.1-12.2(chr22:29537064-30994320)x3) Homo sapiens

Symbol: CV383770
Name: GRCh37/hg19 22q12.1-12.2(chr22:29537064-30994320)x3
Condition: See cases [RCV000448504]
Clinical Significance: uncertain significance
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AP1B1   ASCC2   CABP7   CASTOR1   CCDC157   EMID1   EWSR1   GAL3ST1   GAS2L1   HORMAD2   KREMEN1   LIF   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSM   PES1   RASL10A   RFPL1   RFPL1S   RHBDD3   RNF215   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SF3A1   TBC1D10A   THOC5   UQCR10   ZMAT5  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372229,537,064 - 30,994,320CLINVAR
Cytogenetic Map2222q12.1-12.2CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 12853211
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-09-29
Status: ACTIVE


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