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

Variant : CV595489 (GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1) Homo sapiens

Symbol: CV595489
Name: GRCh37/hg19 2q32.2-33.1(chr2:189490490-200615496)x1
Condition: not provided [RCV000740789]
Clinical Significance: pathogenic
Last Evaluated: 05/22/2012
Review Status: no assertion criteria provided
Related Genes: ANKAR   ANKRD44   ASNSD1   BOLL   C2orf66   C2orf88   CAVIN2   CCDC150   COL3A1   COL5A2   COQ10B   DIRC1   DNAH7   GLS   GTF3C3   HECW2   HIBCH   HSPD1   HSPE1   INPP1   MARS2   MFSD6   MOB4   MSTN   MYO1B   NAB1   NABP1   NEMP2   ORMDL1   OSGEPL1   PCGEM1   PGAP1   PLCL1   PMS1   RFTN2   SATB2   SF3B1   SLC39A10   SLC40A1   STAT1   STAT4   STK17B   TMEFF2   WDR75  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh372189,490,490 - 200,615,496CLINVAR
Cytogenetic Map22q32.2-33.1CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14356163
Created: 2019-02-12
Species: Homo sapiens
Last Modified: 2020-03-24
Status: ACTIVE


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