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Variant : CV163927 (GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3) Homo sapiens

Symbol: CV163927
Name: GRCh38/hg38 20p13-12.3(chr20:80927-5447679)x3
Condition: See cases [RCV000142285]
Clinical Significance: uncertain significance
Last Evaluated: 03/10/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM33   ADRA1D   ANGPT4   AP5S1   ATRN   AVP   C20orf141   C20orf194   C20orf202   C20orf27   C20orf96   CDC25B   CDS2   CENPB   CPXM1   CSNK2A1   DDRGK1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   EBF4   FAM110A   FASTKD5   FKBP1A   FKBP1A-SDCBP2   GFRA4   GNRH2   HSPA12B   IDH3B   ITPA   LINC00658   LINC01433   LINC01730   LZTS3   MAVS   MIR103A2   MIR103B2   MIR1292   MIR6869   MRPS26   NOP56   NRSN2   NRSN2-AS1   NSFL1C   OXT   PANK2   PCED1A   PCNA   PCNA-AS1   PDYN   PDYN-AS1   PRND   PRNP   PRNT   PROKR2   PSMF1   PTPRA   RAD21L1   RASSF2   RBCK1   RNF24   RSPO4   SCRT2   SDCBP2   SDCBP2-AS1   SIGLEC1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SIRPG-AS1   SLC23A2   SLC4A11   SLC52A3   SMOX   SNORA51   SNORD110   SNORD119   SNORD56   SNORD57   SNORD86   SNPH   SNRPB   SOX12   SPEF1   SRXN1   STK35   TBC1D20   TCF15   TGM3   TGM6   TMC2   TMEM230   TMEM239   TMEM74B   TRIB3   UBOX5   UBOX5-AS1   VPS16   ZCCHC3   ZNF343  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.11:g.(?_80927)_(5447679_?)dup
NC_000020.10:g.(?_61568)_(5428325_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382080,927 - 5,447,679CLINVAR
GRCh372061,568 - 5,428,325CLINVAR
Build 36209,568 - 5,376,325CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489804
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-03-24
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.