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

Variant : CV160589 (GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1) Homo sapiens

Symbol: CV160589
Name: GRCh38/hg38 6q25.3-27(chr6:159915390-170714507)x1
Condition: See cases [RCV000139636]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFDN   AFDN-DT   AGPAT4   AGPAT4-IT1   AIRN   AL009178.2   AL022069.3   AL031121.2   AL109910.1   AL109910.2   AL109924.1   AL109924.2   AL121956.1   AL353747.4   AL596442.1   AL606970.3   AL606970.4   C6orf118   C6orf120   CAHM   CCR6   CEP43   DACT2   DLL1   ERMARD   FAM120B   FRMD1   GPR31   HGC6.3   IGF2R   KIF25   KIF25-AS1   LINC00242   LINC00473   LINC00574   LINC00602   LINC01558   LINC01615   LINC01624   LINC02487   LINC02519   LINC02538   LINC02544   LNCDAT   LPA   MAP3K4   MAS1   MIR1913   MIR3939   MIR4644   MPC1   PACRG   PACRG-AS1   PACRG-AS2   PACRG-AS3   PDCD2   PDE10A   PHF10   PLG   PRKN   PRR18   PSMB1   QKI   RNASET2   RPS6KA2   RPS6KA2-AS1   RPS6KA2-IT1   SDIM1   SFT2D1   SLC22A1   SLC22A2   SLC22A3   SMOC2   TBP   TBXT   TCTE3   THBS2   TTLL2   UNC93A   WDR27  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_159915390)_(170714507_?)del
Human AssemblyChrPosition (strand)Source
GRCh386159,915,390 - 170,714,507CLINVAR
GRCh376160,336,422 - 171,023,595CLINVAR
Build 366160,256,412 - 170,865,520CLINVAR
Cytogenetic Map66q25.3-27CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9487167
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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