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

Variant : CV554733 (GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1) Homo sapiens

Symbol: CV554733
Name: GRCh37/hg19 8q23.1-24.13(chr8:110250943-123515785)x1
Condition: not provided [RCV000683038]
Clinical Significance: pathogenic
Last Evaluated: 08/07/2017
Review Status: no assertion criteria provided
Related Genes: AARD   CCN3   COL14A1   COLEC10   CSMD3   DEPTOR   DSCC1   EBAG9   EIF3H   ENPP2   ENY2   EXT1   HAS2   HAS2-AS1   KCNV1   LINC00536   MAL2   MED30   MRPL13   MTBP   NUDCD1   PKHD1L1   RAD21   SAMD12   SLC30A8   SNTB1   SYBU   TAF2   TNFRSF11B   TRPS1   UTP23  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh378110,250,943 - 123,515,785CLINVAR
Cytogenetic Map88q23.1-24.13CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 13795939
Created: 2018-10-09
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.