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

Variant : CV158052 (GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1) Homo sapiens

Symbol: CV158052
Name: GRCh38/hg38 9p24.3-24.1(chr9:204104-5695507)x1
Condition: See cases [RCV000137376]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AK3   CD274   CDC37L1   CDC37L1-DT   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   GLIS3   GLIS3-AS1   INSL4   INSL6   JAK2   KANK1   KCNV2   LINC01230   LINC01231   MIR101-2   PDCD1LG2   PLGRKT   PLPP6   PUM3   RCL1   RFX3   RFX3-AS1   RIC1   RLN1   RLN2   SLC1A1   SMARCA2   SPATA6L   VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204104)_(5695507_?)del
NC_000009.11:g.(?_204104)_(5695507_?)del
NC_000009.10:g.(?_194104)_(5685507_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389204,104 - 5,695,507CLINVAR
GRCh379204,104 - 5,695,507CLINVAR
Build 369194,104 - 5,685,507CLINVAR
Cytogenetic Map99p24.3-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484933
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-21
Status: ACTIVE



NHLBI Logo

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