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Variant : CV155337 (GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3) Homo sapiens

Symbol: CV155337
Name: GRCh38/hg38 3p22.3-22.1(chr3:33728406-40662451)x3
Condition: See cases [RCV000134924]
Clinical Significance: pathogenic
Last Evaluated: 01/14/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAA1   ACVR2B   ACVR2B-AS1   ARPP21   C3orf35   CCR8   CSRNP1   CTDSPL   CX3CR1   DCLK3   DLEC1   EIF1B   EIF1B-AS1   ENTPD3   ENTPD3-AS1   EPM2AIP1   EXOG   GOLGA4   GORASP1   ITGA9   ITGA9-AS1   LINC01811   LINC02033   LRRFIP2   MIR128-2   MIR26A1   MIR6822   MLH1   MOBP   MYD88   MYRIP   OXSR1   PDCD6IP   PLCD1   RPL14   RPSA   SCN10A   SCN11A   SCN5A   SLC22A13   SLC22A14   SLC25A38   SNORA6   SNORA62   STAC   TRANK1   TTC21A   VILL   WDR48   XIRP1   XYLB   ZNF619   ZNF620   ZNF621  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_33728406)_(40662451_?)dup
NC_000003.11:g.(?_33769898)_(40703942_?)dup
NC_000003.10:g.(?_33744902)_(40678946_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38333,728,406 - 40,662,451CLINVAR
GRCh37333,769,898 - 40,703,942CLINVAR
Build 36333,744,902 - 40,678,946CLINVAR
Cytogenetic Map33p22.3-22.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9482497
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.