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Variant : CV607293 (GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3) Homo sapiens

Symbol: CV607293
Name: GRCh37/hg19 19p13.11-11(chr19:16526787-24631604)x3
Condition: not provided [RCV000752593]
Clinical Significance: pathogenic
Last Evaluated: 06/05/2012
Review Status: no assertion criteria provided
Related Genes: ABHD8   ANKLE1   ANO8   ARMC6   ARRDC2   ATP13A1   B3GNT3   BABAM1   BORCS8   BST2   C19orf44   CALR3   CCDC124   CERS1   CHERP   CILP2   COLGALT1   COMP   COPE   CPAMD8   CRLF1   CRTC1   DDA1   DDX49   ELL   EPS15L1   F2RL3   FCHO1   FKBP8   GATAD2A   GDF1   GDF15   GMIP   GTPBP3   HAPLN4   HAUS8   HOMER3   IFI30   IL12RB1   INSL3   IQCN   ISYNA1   JAK3   JUND   KCNN1   KLHL26   KXD1   LPAR2   LRRC25   LSM4   MAP1S   MAST3   MAU2   MED26   MEF2B   MPV17L2   MRPL34   MVB12A   MYO9B   NCAN   NDUFA13   NIBAN3   NR2C2AP   NR2F6   NWD1   NXNL1   OCEL1   PBX4   PDE4C   PGLS   PGPEP1   PIK3R2   PLVAP   RAB3A   REX1BD   RFXANK   RPL18A   SIN3B   SLC25A42   SLC27A1   SLC35E1   SLC5A5   SMIM7   SSBP4   SUGP1   SUGP2   TM6SF2   TMEM161A   TMEM221   TMEM38A   TMEM59L   TSSK6   UBA52   UNC13A   UPF1   USE1   USHBP1   YJEFN3   ZNF100   ZNF101   ZNF14   ZNF208   ZNF253   ZNF254   ZNF257   ZNF429   ZNF43   ZNF430   ZNF431   ZNF486   ZNF492   ZNF493   ZNF506   ZNF626   ZNF675   ZNF676   ZNF681   ZNF682   ZNF708   ZNF714   ZNF726   ZNF728   ZNF729   ZNF730   ZNF737   ZNF85   ZNF90   ZNF91   ZNF93   ZNF98   ZNF99  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371916,526,787 - 24,631,604CLINVAR
Cytogenetic Map1919p13.11-11CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14349096
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-01-07
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.