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

Variant : CV554121 (GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1) Homo sapiens

Symbol: CV554121
Name: GRCh37/hg19 4q21.21-22.3(chr4:81314915-96636651)x1
Condition: not provided [RCV000682426]
Clinical Significance: pathogenic
Last Evaluated: 10/12/2017
Review Status: no assertion criteria provided
Related Genes: ABCG2   ABRAXAS1   AFF1   ARHGAP24   ATOH1   BMP3   BMPR1B   C4orf36   CCSER1   CDS1   CFAP299   COPS4   COQ2   DMP1   DSPP   ENOPH1   FAM13A   FAM13A-AS1   GPAT3   GPRIN3   GRID2   HELQ   HERC3   HERC5   HERC6   HNRNPD   HNRNPDL   HPGDS   HPSE   HSD17B11   HSD17B13   IBSP   KLHL8   LIN54   MAPK10   MEPE   MMRN1   MRPS18C   NAP1L5   NKX6-1   NUDT9   PDLIM5   PIGY   PKD2   PLAC8   PPM1K   PRKG2   PTPN13   PYURF   RASGEF1B   SCD5   SEC31A   SLC10A6   SMARCAD1   SNCA   SPARCL1   SPP1   THAP9   TIGD2   TMEM150C   UNC5C   WDFY3  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh37481,314,915 - 96,636,651CLINVAR
Cytogenetic Map44q21.21-22.3CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795275
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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