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Variant : CV73605 (GRCh38/hg38 21q21.2-21.3(chr21:24292832-27046585)x1) Homo sapiens

Symbol: CV73605
Name: GRCh38/hg38 21q21.2-21.3(chr21:24292832-27046585)x1
Condition: See cases [RCV000052804]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ADAMTS1   ADAMTS5   APP   ATP5PF   CYYR1   CYYR1-AS1   GABPA   JAM2   LINC00158   LINC00515   LINC01684   LINC01689   LINC01692   LOC107403075   LOC110121429   MIR155   MIR155HG   MIR4759   MRPL39  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_24292832)_(27046585_?)del
NC_000021.8:g.(?_25665145)_(28418904_?)del
NC_000021.7:g.(?_24587016)_(27340775_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382124,292,832 - 27,046,585CLINVAR
GRCh372125,665,145 - 28,418,904CLINVAR
Build 362124,587,016 - 27,340,775CLINVAR
Cytogenetic Map2121q21.2-21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8619777
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.