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Variant : CV159769 (GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1) Homo sapiens

Symbol: CV159769
Name: GRCh38/hg38 21q21.1-21.3(chr21:22270514-27695129)x1
Condition: See cases [RCV000138937]
Clinical Significance: likely pathogenic
Last Evaluated: 10/24/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAMTS1   ADAMTS5   APP   ATP5PF   CYYR1   CYYR1-AS1   D21S2088E   GABPA   JAM2   LINC00158   LINC00515   LINC01673   LINC01684   LINC01689   LINC01692   LOC107403075   LOC110121429   MIR155   MIR155HG   MIR4759   MIR6130   MRPL39  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_22270514)_(27695129_?)del
NC_000021.8:g.(?_23642834)_(29067448_?)del
NC_000021.7:g.(?_22564705)_(27989319_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382122,270,514 - 27,695,129CLINVAR
GRCh372123,642,834 - 29,067,448CLINVAR
Build 362122,564,705 - 27,989,319CLINVAR
Cytogenetic Map2121q21.1-21.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486469
Created: 2014-09-09
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.