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Variant : CV154459 (GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1) Homo sapiens

Symbol: CV154459
Name: GRCh38/hg38 9p24.3-24.2(chr9:204193-4210335)x1
Condition: See cases [RCV000134138]
Clinical Significance: pathogenic
Last Evaluated: 11/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   GLIS3   GLIS3-AS1   KANK1   KCNV2   LINC01230   LINC01231   PUM3   RFX3   RFX3-AS1   SMARCA2   VLDLR   VLDLR-AS1  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204193)_(4210335_?)del
NC_000009.11:g.(?_204193)_(4210335_?)del
NC_000009.10:g.(?_194193)_(4200335_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh389204,193 - 4,210,335CLINVAR
GRCh379204,193 - 4,210,335CLINVAR
Build 369194,193 - 4,200,335CLINVAR
Cytogenetic Map99p24.3-24.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481718
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE



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