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Variant : CV158015 (GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3) Homo sapiens

Symbol: CV158015
Name: GRCh38/hg38 9p24.3-24.1(chr9:204104-5426099)x3
Condition: See cases [RCV000137339]
Clinical Significance: pathogenic
Last Evaluated: 02/08/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AK3   CDC37L1   CDC37L1-DT   DMRT1   DMRT2   DMRT3   DOCK8   DOCK8-AS1   GLIS3   GLIS3-AS1   INSL4   INSL6   JAK2   KANK1   KCNV2   LINC01230   LINC01231   MIR101-2   PLGRKT   PLPP6   PUM3   RCL1   RFX3   RFX3-AS1   RLN1   RLN2   SLC1A1   SMARCA2   SPATA6L   VLDLR   VLDLR-AS1  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_204104)_(5426099_?)dup
Human AssemblyChrPosition (strand)Source
GRCh389204,104 - 5,426,099CLINVAR
GRCh379204,104 - 5,426,099CLINVAR
Build 369194,104 - 5,416,099CLINVAR
Cytogenetic Map99p24.3-24.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9484896
Created: 2014-09-09
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.