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

Variant : CV672780 (GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1) Homo sapiens

Symbol: CV672780
Name: GRCh37/hg19 4p16.3-15.33(chr4:3374195-13468480)x1
Condition: not provided [RCV000845896]
Clinical Significance: pathogenic
Last Evaluated: 01/17/2018
Review Status: no assertion criteria provided
Related Genes: ABLIM2   ACOX3   ADRA2C   AFAP1   BLOC1S4   C4orf50   CCDC96   CLNK   CPZ   CRMP1   CYTL1   DEFB131A   DOK7   DRD5   EVC   EVC2   GPR78   GRPEL1   HGFAC   HMX1   HS3ST1   HTRA3   JAKMIP1   KIAA0232   LINC01587   LRPAP1   LYAR   MAN2B2   MIR95   MRFAP1   MRFAP1L1   MSX1   NSG1   OTOP1   PPP2R2C   PSAPL1   RAB28   RGS12   S100P   SH3TC1   SLC2A9   SORCS2   STK32B   STX18   TADA2B   TBC1D14   TMEM128   TRMT44   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   WDR1   WFS1   ZBTB49   ZNF518B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3743,374,195 - 13,468,480CLINVAR
Cytogenetic Map44p16.3-15.33CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 14976386
Created: 2019-10-08
Species: Homo sapiens
Last Modified: 2020-06-23
Status: ACTIVE


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