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Variant : CV436087 (GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3) Homo sapiens

Symbol: CV436087
Name: GRCh37/hg19 2q36.1-37.3(chr2:222077224-239394441)x3
Condition: See cases [RCV000511816]
Clinical Significance: pathogenic
Last Evaluated: 07/07/2014
Review Status: no assertion criteria provided
Related Genes: ACKR3   ACSL3   AGAP1   AGFG1   ALPG   ALPI   ALPP   AP1S3   ARL4C   ARMC9   ASB1   ASB18   ATG16L1   B3GNT7   C2orf72   C2orf83   CAB39   CCDC140   CCL20   CHRND   CHRNG   COL4A3   COL4A4   COL6A3   COPS7B   COPS8   CUL3   DAW1   DGKD   DIS3L2   DNAJB3   DNER   DOCK10   ECEL1   EFHD1   EIF4E2   EPHA4   ERFE   ESPNL   FAM124B   FARSB   FBXO36   GBX2   GIGYF2   GPR55   HES6   HJURP   HTR2B   ILKAP   IQCA1   IRS1   ITM2C   KCNE4   KCNJ13   KLHL30   LRRFIP1   MFF   MLPH   MOGAT1   MROH2A   MRPL44   NCL   NEU2   NGEF   NMUR1   NPPC   NYAP2   PAX3   PDE6D   PER2   PID1   PRLH   PRSS56   PSMD1   PTMA   RAB17   RAMP1   RBM44   RHBDD1   SAG   SCG2   SCLY   SERPINE2   SGPP2   SH3BP4   SLC16A14   SLC19A3   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPATA3   SPHKAP   SPP2   TEX44   TIGD1   TM4SF20   TRAF3IP1   TRIP12   TRPM8   UBE2F   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40   WDFY1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372222,077,224 - 239,394,441CLINVAR
Cytogenetic Map22q36.1-37.3CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13444785
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE


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