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Variant : CV163379 (GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1) Homo sapiens

Symbol: CV163379
Name: GRCh38/hg38 21q11.2-21.1(chr21:13634136-18211199)x1
Condition: See cases [RCV000141944]
Clinical Significance: pathogenic
Last Evaluated: 08/02/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: BTG3   BTG3-AS1   C21orf91   C21orf91-OT1   CHODL   CHODL-AS1   CXADR   HSPA13   LINC01549   LINC02246   LIPI   LOC105377134   LOC107403153   LOC110121341   LOC110121368   LOC112694732   LOC112694733   LOC112694734   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   MIR125B2   MIR3118-1   MIR8069-2   MIR99A   MIR99AHG   MIRLET7C   NRIP1   POTED   RBM11   SAMSN1   SAMSN1-AS1   SNORD74B   TRG-GCC1-5   USP25  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_13634136)_(18211199_?)del
Human AssemblyChrPosition (strand)Source
GRCh382113,634,136 - 18,211,199CLINVAR
GRCh372115,006,457 - 19,583,516CLINVAR
Build 362113,928,328 - 18,505,387CLINVAR
Cytogenetic Map2121q11.2-21.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489465
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


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