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Variant : CV553864 (GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3) Homo sapiens

Symbol: CV553864
Name: GRCh37/hg19 2p22.3-16.1(chr2:34792916-56676541)x3
Condition: not provided [RCV000682169]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2018
Review Status: no assertion criteria provided
Related Genes: ABCG5   ABCG8   ACYP2   ARHGEF33   ASB3   ATL2   ATP6V1E2   BCYRN1   C2orf73   C2orf91   CALM2   CAMKMT   CCDC85A   CCDC88A   CDC42EP3   CDKL4   CEBPZ   CFAP36   CHAC2   CLHC1   COX7A2L   CRIM1   CRIPT   CYP1B1   DHX57   DYNC2LI1   EFEMP1   EIF2AK2   EML4   EML6   EPAS1   EPCAM   ERLEC1   FBXO11   FEZ2   FOXN2   FSHR   GALM   GEMIN6   GPATCH11   GPR75   GPR75-ASB3   GTF2A1L   HAAO   HEATR5B   HNRNPLL   KCNG3   KCNK12   LHCGR   LRPPRC   MAP4K3   MCFD2   MIR216A   MIR217   MORN2   MSH2   MSH2-OT1   MSH6   MTA3   MTIF2   NDUFAF7   NRXN1   OXER1   PIGF   PKDCC   PLEKHH2   PNPT1   PPM1B   PPP1R21   PPP4R3B   PREPL   PRKCE   PRKD3   PSME4   QPCT   RHOQ   RMDN2   RPS27A   RTN4   SIX2   SIX3   SLC3A1   SLC8A1   SOCS5   SOS1   SOS1-IT1   SPTBN1   SRBD1   SRSF7   STON1   STON1-GTF2A1L   STPG4   STRN   SULT6B1   THADA   THUMPD2   TMEM178A   TMEM247   TSPYL6   TTC7A   VIT   ZFP36L2  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37234,792,916 - 56,676,541CLINVAR
Cytogenetic Map22p22.3-16.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13794946
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE


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