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Variant : CV163850 (GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3) Homo sapiens

Symbol: CV163850
Name: GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3
Condition: See cases [RCV000142241]
Clinical Significance: likely pathogenic
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC025822.2   ADARB2   AKR1C1   AKR1C2   AKR1C3   AKR1C4   AKR1E2   ANKRD16   ASB13   ATP5F1C   CALML3   CALML3-AS1   CALML5   FBH1   GATA3   GATA3-AS1   GDI2   IL15RA   IL2RA   ITIH2   ITIH5   KIN   KLF6   LASTR   LINC00700   LINC00701   LINC00702   LINC00703   LINC00705   LINC00706   LINC00707   LINC00708   LINC02561   LINC02639   LINC02642   LINC02645   LINC02648   LINC02649   LINC02656   LINC02660   LINC02662   LINC02665   LINC02668   LINC02669   LINC02676   LINC02677   LINC02678   LINP1   LOC101928272   LOC105376353   LOC105376360   LOC105376398   LOC106783505   LOC108348022   LOC110121449   LOC110121467   LOC111818965   LOC111946234   LOC111946236   LOC111946241   LOC111946242   LOC111946245   LOC111946246   LOC111946251   LOC111946252   LOC116216105   LOC116216106   LOC116216107   LOC116216108   LOC116216109   LOC116216110   LOC116216111   MANCR   MIR3155A   MIR3155B   MIR6072   MIR6078   NET1   PFKFB3   PFKP   PFKP-DT   PITRM1   PITRM1-AS1   PRKCQ   PRKCQ-AS1   RBM17   SFMBT2   SNORD129   SNORD142   TAF3   TASOR2   TRV-TAC3-1   TUBAL3   UCN3  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_1601172)_(9203729_?)dup
Human AssemblyChrPosition (strand)Source
GRCh38101,601,172 - 9,203,729CLINVAR
GRCh37101,643,367 - 9,245,692CLINVAR
Build 36101,633,367 - 9,285,698CLINVAR
Cytogenetic Map1010p15.3-14CLINVAR

References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 9489760
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-11-17
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.