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Variant : CV73882 (GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1) Homo sapiens

Symbol: CV73882
Name: GRCh38/hg38 22q11.22-11.23(chr22:22703701-23285204)x1
Condition: Stridor [RCV000053113]|See cases [RCV000053113]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BCR   GNAZ   IGL   IGLC1   IGLC2   IGLC3   IGLC7   IGLJ1   IGLJ2   IGLJ3   IGLJ4   IGLJ5   IGLJ6   IGLJ7   IGLL5   IGLV2-11   IGLV2-14   IGLV2-18   IGLV2-8   IGLV3-1   IGLV3-10   IGLV3-12   IGLV3-16   IGLV3-19   IGLV3-21   IGLV3-22   IGLV3-9   IGLV4-3   MIR5571   MIR650   RAB36   RSPH14  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_22703701)_(23285204_?)del
NC_000022.10:g.(?_23046186)_(23627391_?)del
NC_000022.9:g.(?_21376186)_(21957391_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382222,703,701 - 23,285,204CLINVAR
GRCh372223,046,186 - 23,627,391CLINVAR
Build 362221,376,186 - 21,957,391CLINVAR
Cytogenetic Map2222q11.22-11.23CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620060
Created: 2014-05-13
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.