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Variant : CV73602 (GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1) Homo sapiens

Symbol: CV73602
Name: GRCh38/hg38 21q11.2-21.1(chr21:14127526-19238720)x1
Condition: See cases [RCV000052801]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BTG3   BTG3-AS1   C21orf91   C21orf91-OT1   CHODL   CHODL-AS1   CXADR   HSPA13   LINC01549   LINC02246   LIPI   LOC107403153   LOC110121341   LOC110121368   LOC112694732   LOC112694733   LOC112694734   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   MIR125B2   MIR548X   MIR548XHG   MIR99A   MIR99AHG   MIRLET7C   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.(?_14127526)_(19238720_?)del
NC_000021.8:g.(?_15499847)_(20611037_?)del
NC_000021.7:g.(?_14421718)_(19532908_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382114,127,526 - 19,238,720CLINVAR
GRCh372115,499,847 - 20,611,037CLINVAR
Build 362114,421,718 - 19,532,908CLINVAR
Cytogenetic Map2121q11.2-21.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619774
Created: 2014-05-13
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.