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Variant : CV162592 (GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3) Homo sapiens

Symbol: CV162592
Name: GRCh38/hg38 20p13-12.3(chr20:84402-6159078)x3
Condition: See cases [RCV000141348]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM33   ADRA1D   AL110114.1   ANGPT4   AP5S1   ATRN   AVP   C20orf141   C20orf194   C20orf202   C20orf27   C20orf96   CDC25B   CDS2   CENPB   CHGB   CPXM1   CRLS1   CSNK2A1   DDRGK1   DEFB125   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   EBF4   FAM110A   FASTKD5   FERMT1   FKBP1A   FKBP1A-SDCBP2   GFRA4   GNRH2   GPCPD1   HSPA12B   IDH3B   ITPA   LINC00654   LINC00658   LINC01433   LINC01729   LINC01730   LOC643406   LRRN4   LZTS3   MAVS   MCM8   MCM8-AS1   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   SHLD1   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   TRMT6   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.(?_84402)_(6159078_?)dup
NC_000020.10:g.(?_65043)_(6139725_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh382084,402 - 6,159,078CLINVAR
GRCh372065,043 - 6,139,725CLINVAR
Build 362013,043 - 6,087,725CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9488873
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
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.