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

Variant : CV381155 (GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1) Homo sapiens

Symbol: CV381155
Name: GRCh37/hg19 9p24.3-22.2(chr9:213161-17496750)x1
Condition: See cases [RCV000445998]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: AK3   BNC2   CCDC171   CD274   CDC37L1   CER1   CNTLN   DMAC1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   ERMP1   FREM1   GLDC   GLIS3   IL33   INSL4   INSL6   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   LURAP1L   MIR101-2   MLANA   MPDZ   NFIB   PDCD1LG2   PLGRKT   PLPP6   PSIP1   PTPRD   PUM3   RANBP6   RCL1   RFX3   RIC1   RLN1   RLN2   SLC1A1   SMARCA2   SNAPC3   SPATA6L   TPD52L3   TTC39B   TYRP1   UHRF2   VLDLR   ZDHHC21  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh379213,161 - 17,496,750CLINVAR
Cytogenetic Map99p24.3-22.2CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 12850727
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
Status: ACTIVE


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