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Variant : CV162717 (GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1) Homo sapiens

Symbol: CV162717
Name: GRCh38/hg38 13q33.3-34(chr13:107708655-112101112)x1
Condition: See cases [RCV000141465]
Clinical Significance: pathogenic
Last Evaluated: 02/04/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD13   ANKRD10   ANKRD10-IT1   ARHGEF7   ARHGEF7-AS1   ARHGEF7-AS2   CARS2   COL4A1   COL4A2   COL4A2-AS1   COL4A2-AS2   FAM155A   FAM155A-IT1   ING1   IRS2   LIG4   LINC00354   LINC00368   LINC00370   LINC00396   LINC00399   LINC00431   LINC00567   LINC00676   LINC02337   MIR8073   MYO16   MYO16-AS1   NAXD   PRECSIT   RAB20   SOX1   SOX1-OT   TEX29   TNFSF13B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000013.11:g.(?_107708655)_(112101112_?)del
NC_000013.10:g.(?_108361003)_(112755426_?)del
NC_000013.9:g.(?_107159004)_(111803427_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3813107,708,655 - 112,101,112CLINVAR
GRCh3713108,361,003 - 112,755,426CLINVAR
Build 3613107,159,004 - 111,803,427CLINVAR
Cytogenetic Map1313q33.3-34CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488990
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-07
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.