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Variant : CV389099 (GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3) Homo sapiens

Symbol: CV389099
Name: GRCh37/hg19 2p23.3-16.1(chr2:27861707-60790985)x3
Condition: See cases [RCV000454271]
Clinical Significance: pathogenic
Last Evaluated: 12/02/2016
Review Status: criteria provided, single submitter
Related Genes: ABCG5   ABCG8   ACYP2   ALK   ARHGEF33   ASB3   ATL2   ATP6V1E2   BABAM2   BCL11A   BCYRN1   BIRC6   C2orf73   C2orf91   CALM2   CAMKMT   CAPN13   CAPN14   CCDC85A   CCDC88A   CDC42EP3   CDKL4   CEBPZ   CFAP36   CHAC2   CLHC1   CLIP4   COX7A2L   CRIM1   CRIPT   CYP1B1   DHX57   DPY30   DYNC2LI1   EFEMP1   EHD3   EIF2AK2   EML4   EML6   EPAS1   EPCAM   ERLEC1   FAM98A   FANCL   FBXO11   FEZ2   FOSL2   FOXN2   FSHR   GALM   GALNT14   GEMIN6   GPATCH11   GPN1   GPR75   GPR75-ASB3   GTF2A1L   HAAO   HEATR5B   HNRNPLL   KCNG3   KCNK12   LBH   LCLAT1   LHCGR   LRPPRC   LTBP1   MAP4K3   MCFD2   MEMO1   MIR216A   MIR217   MORN2   MRPL33   MSH2   MSH2-OT1   MSH6   MTA3   MTIF2   NDUFAF7   NLRC4   NRXN1   OXER1   PCARE   PIGF   PKDCC   PLB1   PLEKHH2   PNPT1   PPM1B   PPP1CB   PPP1R21   PPP4R3B   PREPL   PRKCE   PRKD3   PSME4   QPCT   RASGRP3   RBKS   RHOQ   RMDN2   RPS27A   RTN4   SIX2   SIX3   SLC30A6   SLC3A1   SLC4A1AP   SLC8A1   SOCS5   SOS1   SOS1-IT1   SPAST   SPDYA   SPTBN1   SRBD1   SRD5A2   SRSF7   STON1   STON1-GTF2A1L   STPG4   STRN   SULT6B1   SUPT7L   THADA   THUMPD2   TMEM178A   TMEM247   TOGARAM2   TRMT61B   TSPYL6   TTC27   TTC7A   VIT   VRK2   WDR43   XDH   YIPF4   YPEL5   ZFP36L2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37227,861,707 - 60,790,985CLINVAR
Cytogenetic Map22p23.3-16.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 12858946
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-06-23
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.