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Variant : CV159576 (GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1) Homo sapiens

Symbol: CV159576
Name: GRCh38/hg38 21q11.2-21.1(chr21:14112717-21297273)x1
Condition: See cases [RCV000138781]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BTG3   BTG3-AS1   C21orf91   C21orf91-OT1   CHODL   CHODL-AS1   CXADR   HSPA13   LINC00320   LINC01549   LINC01683   LINC02246   LINC02573   LIPI   LOC107403153   LOC110121341   LOC110121368   LOC112694732   LOC112694733   LOC112694734   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   MIR125B2   MIR548X   MIR548XHG   MIR99A   MIR99AHG   MIRLET7C   NCAM2   NRIP1   RBM11   SAMSN1   SAMSN1-AS1   SNORD74B   TMPRSS15   TRG-GCC1-5   USP25  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_14112717)_(21297273_?)del
NC_000021.8:g.(?_15485038)_(22669593_?)del
NC_000021.7:g.(?_14406909)_(21591464_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382114,112,717 - 21,297,273CLINVAR
GRCh372115,485,038 - 22,669,593CLINVAR
Build 362114,406,909 - 21,591,464CLINVAR
Cytogenetic Map2121q11.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486318
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
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.