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Variant : CV73601 (GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1) Homo sapiens

Symbol: CV73601
Name: GRCh38/hg38 21q11.2-21.1(chr21:14019847-18125051)x1
Condition: See cases [RCV000052800]
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   LOC105377134   LOC107403153   LOC110121341   LOC110121368   LOC112694732   LOC112694733   LOC112694734   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   MIR125B2   MIR99A   MIR99AHG   MIRLET7C   NRIP1   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.(?_14019847)_(18125051_?)del
Human AssemblyChrPosition (strand)Source
GRCh382114,019,847 - 18,125,051CLINVAR
GRCh372115,392,168 - 19,497,369CLINVAR
Build 362114,314,039 - 18,419,240CLINVAR
Cytogenetic Map2121q11.2-21.1CLINVAR
Prevalence: mental retardation is caused by aberrant copy numbers of subtelomeric regions in 3-8% of all cases.

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8619773
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.