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Variant : CV73815 (GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3) Homo sapiens

Symbol: CV73815
Name: GRCh38/hg38 21q11.2-21.1(chr21:13076061-19390260)x3
Condition: See cases [RCV000053038]
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   LINC01674   LINC02246   LIPI   LOC105377134   LOC107403153   LOC110121341   LOC110121368   LOC112694732   LOC112694733   LOC112694734   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   MIR125B2   MIR3118-1   MIR3156-3   MIR548X   MIR548XHG   MIR8069-2   MIR99A   MIR99AHG   MIRLET7C   NRIP1   POTED   RBM11   SAMSN1   SAMSN1-AS1   SNORD74B   TMPRSS15   TRG-GCC1-5   USP25  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_13076061)_(19390260_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382113,076,061 - 19,390,260CLINVAR
GRCh372114,448,382 - 20,762,577CLINVAR
Build 362113,370,253 - 19,684,448CLINVAR
Cytogenetic Map2121q11.2-21.1CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619990
Created: 2014-05-13
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.