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Variant : CV165306 (GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1) Homo sapiens

Symbol: CV165306
Name: GRCh38/hg38 6q26-27(chr6:160899898-170610394)x1
Condition: See cases [RCV000143619]
Clinical Significance: pathogenic
Last Evaluated: 10/01/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AFDN   AFDN-DT   AGPAT4   AGPAT4-IT1   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   KIF25   KIF25-AS1   LINC00242   LINC00473   LINC00574   LINC00602   LINC01558   LINC01615   LINC01624   LINC02487   LINC02519   LINC02538   LINC02544   LNCDAT   MAP3K4   MIR1913   MIR3939   MIR4644   MPC1   PACRG   PACRG-AS1   PACRG-AS2   PACRG-AS3   PDCD2   PDE10A   PHF10   PRKN   PRR18   PSMB1   QKI   RNASET2   RPS6KA2   RPS6KA2-AS1   RPS6KA2-IT1   SDIM1   SFT2D1   SMOC2   TBP   TBXT   TCTE3   THBS2   TTLL2   UNC93A   WDR27  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_160899898)_(170610394_?)del
NC_000006.11:g.(?_161320930)_(170919482_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh386160,899,898 - 170,610,394CLINVAR
GRCh376161,320,930 - 170,919,482CLINVAR
Build 366161,240,920 - 170,761,407CLINVAR
Cytogenetic Map66q26-27CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491217
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-06-30
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.