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Variant : CV382685 (GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3) Homo sapiens

Symbol: CV382685
Name: GRCh37/hg19 2q35-37.3(chr2:219966808-237815985)x3
Condition: See cases [RCV000448049]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCB6   ACKR3   ACSL3   AGAP1   AGFG1   ALPG   ALPI   ALPP   ANKZF1   AP1S3   ARL4C   ARMC9   ASB18   ASIC4   ATG16L1   ATG9A   B3GNT7   C2orf72   C2orf83   CAB39   CCDC140   CCL20   CHPF   CHRND   CHRNG   CNPPD1   COL4A3   COL4A4   COPS7B   CUL3   DAW1   DES   DGKD   DIS3L2   DNAJB2   DNAJB3   DNER   DNPEP   DOCK10   ECEL1   EFHD1   EIF4E2   EPHA4   FAM124B   FARSB   FBXO36   GBX2   GIGYF2   GLB1L   GMPPA   GPR55   HJURP   HTR2B   INHA   IQCA1   IRS1   ITM2C   KCNE4   KCNJ13   MFF   MOGAT1   MROH2A   MRPL44   NCL   NEU2   NGEF   NHEJ1   NMUR1   NPPC   NYAP2   OBSL1   PAX3   PDE6D   PID1   PRSS56   PSMD1   PTMA   PTPRN   RESP18   RETREG2   RHBDD1   SAG   SCG2   SERPINE2   SGPP2   SH3BP4   SLC16A14   SLC19A3   SLC23A3   SLC4A3   SNORC   SNORD20   SNORD82   SP100   SP110   SP140   SP140L   SPATA3   SPEG   SPHKAP   SPP2   STK11IP   STK16   TEX44   TIGD1   TM4SF20   TMEM198   TRIP12   TRPM8   TUBA4A   UGT1A1   UGT1A10   UGT1A3   UGT1A4   UGT1A5   UGT1A6   UGT1A7   UGT1A8   UGT1A9   USP40   WDFY1   ZFAND2B  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372219,966,808 - 237,815,985CLINVAR
Cytogenetic Map22q35-37.3CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12852760
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-02-11
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.