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Variant : CV73839 (GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3) Homo sapiens

Symbol: CV73839
Name: GRCh38/hg38 21q11.2-21.1(chr21:14127526-17193289)x3
Condition: See cases [RCV000053066]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: HSPA13   LINC02246   LIPI   LOC107403153   LOC110121341   LOC110121368   LOC112694732   LOC112694733   LOC116309120   LOC116309121   LOC116309122   LOC116309123   LOC388813   MIR125B2   MIR99A   MIR99AHG   MIRLET7C   NRIP1   RBM11   SAMSN1   SAMSN1-AS1   SNORD74B   USP25  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_14127526)_(17193289_?)dup
Human AssemblyChrPosition (strand)Source
GRCh382114,127,526 - 17,193,289CLINVAR
GRCh372115,499,847 - 18,565,607CLINVAR
Build 362114,421,718 - 17,487,478CLINVAR
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: 8620014
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.