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

Variant : CV554857 (GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1) Homo sapiens

Symbol: CV554857
Name: GRCh37/hg19 9p24.3-24.1(chr9:203861-7007586)x1
Condition: not provided [RCV000683162]
Clinical Significance: pathogenic
Last Evaluated: 08/25/2017
Review Status: no assertion criteria provided
Related Genes: AK3   CD274   CDC37L1   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   ERMP1   GLDC   GLIS3   IL33   INSL4   INSL6   JAK2   KANK1   KCNV2   KDM4C   KIAA2026   MIR101-2   MLANA   PDCD1LG2   PLGRKT   PLPP6   PUM3   RANBP6   RCL1   RFX3   RIC1   RLN1   RLN2   SLC1A1   SMARCA2   SPATA6L   TPD52L3   UHRF2   VLDLR  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh379203,861 - 7,007,586CLINVAR
Cytogenetic Map99p24.3-24.1CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13796096
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


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