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Variant : CV436077 (GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3) Homo sapiens

Symbol: CV436077
Name: GRCh37/hg19 22q12.1-12.3(chr22:28349854-33013062)x3
Condition: See cases [RCV000510523]
Clinical Significance: likely pathogenic
Last Evaluated: 09/09/2015
Review Status: no assertion criteria provided
Related Genes: AP1B1   ASCC2   BPIFC   C22orf24   C22orf31   C22orf42   CABP7   CASTOR1   CCDC117   CCDC157   CHEK2   DEPDC5   DRG1   DUSP18   EIF4ENIF1   EMID1   EWSR1   FBXO7   GAL3ST1   GAS2L1   HORMAD2   HSCB   INPP5J   KREMEN1   LIF   LIMK2   MORC2   MTFP1   MTMR3   NEFH   NF2   NIPSNAP1   OSBP2   OSM   PATZ1   PES1   PIK3IP1   PISD   PLA2G3   PRR14L   RASL10A   RFPL1   RFPL1S   RFPL2   RFPL3   RFPL3S   RHBDD3   RNF185   RNF215   RTCB   SEC14L2   SEC14L3   SEC14L4   SEC14L6   SELENOM   SF3A1   SFI1   SLC35E4   SLC5A1   SLC5A4   SMTN   SYN3   TBC1D10A   TCN2   THOC5   TTC28   TUG1   UQCR10   XBP1   YWHAH   ZMAT5   ZNRF3  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372228,349,854 - 33,013,062CLINVAR
Cytogenetic Map2222q12.1-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443502
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-09-22
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.