Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV154507 (GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3) Homo sapiens

Symbol: CV154507
Name: GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3
Condition: See cases [RCV000134169]
Clinical Significance: pathogenic
Last Evaluated: 08/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACKR3   AGAP1   AGAP1-IT1   AGXT   ALPG   ALPI   ALPP   ANKMY1   ANO7   AQP12A   AQP12B   ARL4C   ARMC9   ASB1   ASB18   ATG16L1   B3GNT7   C2orf72   CAB39   CAPN10   CAPN10-DT   CHRND   CHRNG   COL6A3   COPS7B   COPS8   COPS9   CROCC2   DGKD   DIS3L2   DNAJB3   DNER   DUSP28   ECEL1   EFHD1   EIF4E2   ERFE   ESPNL   FARP2   FBXO36   GBX2   GCSIR   GIGYF2   GPC1   GPR35   GPR55   HDAC4   HDAC4-AS1   HDLBP   HES6   HJURP   HTR2B   ILKAP   INPP5D   IQCA1   ITM2C   KCNJ13   KIF1A   KLHL30   LINC00471   LINC01107   LINC01173   LINC01891   LINC01907   LINC01937   LINC01940   LINC02610   LRRFIP1   MAB21L4   MIR1244-1   MIR1471   MIR149   MIR2467   MIR4269   MIR4440   MIR4441   MIR4777   MIR4786   MIR5001   MIR562   MIR6811   MLPH   MROH2A   MTERF4   NCL   NDUFA10   NEU2   NGEF   NMUR1   NPPC   OR6B2   OR6B3   OTOS   PASK   PDE6D   PER2   PID1   PPP1R7   PRLH   PRR21   PRSS56   PSMD1   PTMA   RAB17   RAMP1   RBM44   RNPEPL1   SAG   SCARNA5   SCARNA6   SCLY   SEPTIN2   SH3BP4   SLC16A14   SNED1   SNORA75   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPATA3   SPATA3-AS1   SPP2   TEX44   TIGD1   TNRC17   TRAF3IP1   TRIP12   TRPM8   TWIST2   UBE2F   UBE2F-SCLY   UGT1A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000002.12:g.(?_228723579)_(241404867_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382228,723,579 - 241,404,867CLINVAR
GRCh372229,588,295 - 242,344,282CLINVAR
Build 362229,296,539 - 241,992,955CLINVAR
Cytogenetic Map22q36.3-37.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9481749
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-12
Status: ACTIVE


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