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Variant : CV163815 (GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1) Homo sapiens

Symbol: CV163815
Name: GRCh38/hg38 21q22.3(chr21:44516679-45409275)x1
Condition: See cases [RCV000142218]
Clinical Significance: uncertain significance
Last Evaluated: 12/03/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADARB1   COL18A1   COL18A1-AS2   FAM207A   ITGB2   ITGB2-AS1   KRTAP10-1   KRTAP10-10   KRTAP10-11   KRTAP10-12   KRTAP10-2   KRTAP10-3   KRTAP10-4   KRTAP10-5   KRTAP10-6   KRTAP10-7   KRTAP10-8   KRTAP10-9   KRTAP12-1   KRTAP12-2   KRTAP12-3   KRTAP12-4   LINC00163   LINC00205   LINC00315   LINC00316   LINC00334   LINC01424   LINC01547   PICSAR   POFUT2   PTTG1IP   SUMO3   TSPEAR   TSPEAR-AS2   UBE2G2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000021.9:g.(?_44516679)_(45409275_?)del
NC_000021.8:g.(?_45936562)_(46829190_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382144,516,679 - 45,409,275CLINVAR
GRCh372145,936,562 - 46,829,190CLINVAR
Build 362144,760,990 - 45,653,618CLINVAR
Cytogenetic Map2121q22.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9489737
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.