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Variant : CV160577 (GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1) Homo sapiens

Symbol: CV160577
Name: GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1
Condition: See cases [RCV000139626]
Clinical Significance: pathogenic
Last Evaluated: 07/25/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABHD6   AC104167.1   ACOX2   ADAMTS9   ADAMTS9-AS1   ADAMTS9-AS2   APPL1   ARF4   ARF4-AS1   ARL6IP5   ASB14   ATXN7   C3orf14   C3orf38   C3orf49   CADM2   CADM2-AS1   CADM2-AS2   CADPS   CFAP20DC   CFAP20DC-AS1   CGGBP1   CHMP2B   CNTN3   CSNKA2IP   DENND6A   DENND6A-DT   DNAH12   DNASE1L3   EBLN2   EIF4E3   EOGT   EPHA3   FAM107A   FAM3D   FAM3D-AS1   FEZF2   FHIT   FLNB   FLNB-AS1   FOXP1   FOXP1-AS1   FOXP1-IT1   FRG2C   FRMD4B   GBE1   GPR27   GXYLT2   HESX1   HTD2   HTR1F   IL17RD   KBTBD8   KCTD6   LINC00506   LINC00698   LINC00870   LINC00877   LINC00960   LINC00971   LINC00994   LINC02005   LINC02008   LINC02018   LINC02025   LINC02027   LINC02040   LINC02047   LINC02050   LINC02070   LINC02077   LMOD3   LRIG1   MAGI1   MAGI1-AS1   MAGI1-IT1   MDFIC2   MIR1284   MIR1324   MIR3136   MIR3923   MIR4272   MIR4273   MIR4444-2   MIR4795   MIR548BB   MIR5688   MITF   PDE12   PDHB   PDZRN3   PDZRN3-AS1   POU1F1   PPP4R2   PRICKLE2   PRICKLE2-AS1   PRICKLE2-AS2   PRICKLE2-AS3   PRICKLE2-DT   PROK2   PSMD6   PSMD6-AS2   PTPRG   PTPRG-AS1   PXK   ROBO1   ROBO2   RPP14   RYBP   SAMMSON   SCAANT1   SHQ1   SLC25A26   SLMAP   SNORA95   SNTN   SUCLG2   SUCLG2-AS1   SYNPR   SYNPR-AS1   TAFA1   TAFA4   THOC7   THOC7-AS1   TMF1   UBA3   VGLL3   ZNF654   ZNF717  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_57140424)_(90259960_?)del
NC_000003.11:g.(?_57174452)_(90309110_?)del
NC_000003.10:g.(?_57149492)_(90391800_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38357,140,424 - 90,259,960CLINVAR
GRCh37357,174,452 - 90,309,110CLINVAR
Build 36357,149,492 - 90,391,800CLINVAR
Cytogenetic Map33p14.3-11.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9487157
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.