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Variant : CV158914 (GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1) Homo sapiens

Symbol: CV158914
Name: GRCh38/hg38 22q13.31(chr22:45445795-47832195)x1
Condition: See cases [RCV000138217]
Clinical Significance: uncertain significance
Last Evaluated: 09/27/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ATXN10   CDPF1   CELSR1   CERK   FBLN1   GRAMD4   GTSE1   GTSE1-DT   LINC00898   LINC00899   LINC01589   LINC01644   MIR3619   MIR4762   MIR4763   MIRLET7A3   MIRLET7B   MIRLET7BHG   PKDREJ   PPARA   PRR34   PRR34-AS1   TBC1D22A   TBC1D22A-AS1   TRMU   TTC38   WNT7B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000022.11:g.(?_45445795)_(47832195_?)del
NC_000022.10:g.(?_45841676)_(48227944_?)del
NC_000022.9:g.(?_44220340)_(46606608_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh382245,445,795 - 47,832,195CLINVAR
GRCh372245,841,676 - 48,227,944CLINVAR
Build 362244,220,340 - 46,606,608CLINVAR
Cytogenetic Map2222q13.31CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9485766
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-11-05
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.