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

Variant : CV436924 (GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1) Homo sapiens

Symbol: CV436924
Name: GRCh37/hg19 4q13.1-21.1(chr4:66017575-76772947)x1
Condition: See cases [RCV000510445]
Clinical Significance: pathogenic
Last Evaluated: 10/10/2014
Review Status: no assertion criteria provided
Related Genes: ADAMTS3   AFM   AFP   ALB   AMBN   AMTN   ANKRD17   AREG   BTC   CABS1   CDKL2   CENPC   COX18   CSN1S1   CSN2   CSN3   CXCL1   CXCL2   CXCL3   CXCL5   CXCL6   CXCL8   DCK   ENAM   EPGN   EPHA5   EREG   FDCSP   G3BP2   GC   GNRHR   GRSF1   HTN1   HTN3   JCHAIN   MOB1B   MTHFD2L   MUC7   NPFFR2   ODAM   ODAPH   OPRPN   PARM1   PF4   PF4V1   PPBP   PRR27   RASSF6   RCHY1   RUFY3   SLC4A4   SMR3A   SMR3B   STAP1   STATH   SULT1B1   SULT1E1   THAP6   TMPRSS11A   TMPRSS11B   TMPRSS11D   TMPRSS11E   TMPRSS11F   UBA6   UGT2A1   UGT2A2   UGT2A3   UGT2B10   UGT2B11   UGT2B15   UGT2B17   UGT2B28   UGT2B4   UGT2B7   USO1   UTP3   YTHDC1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37466,017,575 - 76,772,947CLINVAR
Cytogenetic Map44q13.1-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13443424
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2020-02-11
Status: ACTIVE



NHLBI Logo

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