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Variant : CV72367 (GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1) Homo sapiens

Symbol: CV72367
Name: GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1
Condition: See cases [RCV000051512]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC104167.1   ADAMTS9-AS2   ARL6IP5   CNTN3   EBLN2   EIF4E3   EOGT   FOXP1   FOXP1-AS1   FOXP1-IT1   FRG2C   FRMD4B   GPR27   GXYLT2   KBTBD8   LINC00870   LINC00877   LINC00960   LINC02005   LINC02018   LINC02040   LINC02047   LINC02077   LMOD3   LRIG1   MAGI1   MAGI1-AS1   MAGI1-IT1   MDFIC2   MIR1284   MIR1324   MIR3136   MIR4272   MIR4273   MIR4444-2   MITF   PDZRN3   PDZRN3-AS1   PPP4R2   PROK2   ROBO2   RYBP   SAMMSON   SHQ1   SLC25A26   SUCLG2   SUCLG2-AS1   TAFA1   TAFA4   TMF1   UBA3   ZNF717  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_64761248)_(78410098_?)del
NC_000003.11:g.(?_64746924)_(78459248_?)del
NC_000003.10:g.(?_64721964)_(78541938_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38364,761,248 - 78,410,098CLINVAR
GRCh37364,746,924 - 78,459,248CLINVAR
Build 36364,721,964 - 78,541,938CLINVAR
Cytogenetic Map33p14.1-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618527
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
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.