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Variant : CV248014 (GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3) Homo sapiens

Symbol: CV248014
Name: GRCh37/hg19 20p13-12.3(chr20:121521-5564937)x3
Condition: See cases [RCV000239772]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ADAM33   ADRA1D   ANGPT4   AP5S1   ATRN   AVP   C20orf141   C20orf194   C20orf202   C20orf27   C20orf96   CDC25B   CDS2   CENPB   CPXM1   CSNK2A1   DDRGK1   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   EBF4   FAM110A   FASTKD5   FKBP1A   GFRA4   GNRH2   GPCPD1   HSPA12B   IDH3B   ITPA   LZTS3   MAVS   MIR103A2   MIR1292   MRPS26   NOP56   NRSN2   NSFL1C   OXT   PANK2   PCED1A   PCNA   PCNA-AS1   PDYN   PRND   PRNP   PROKR2   PSMF1   PTPRA   RAD21L1   RASSF2   RBCK1   RNF24   RSPO4   SCRT2   SDCBP2   SIGLEC1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SLC23A2   SLC4A11   SLC52A3   SMOX   SNPH   SNRPB   SOX12   SPEF1   SRXN1   STK35   TBC1D20   TCF15   TGM3   TGM6   TMC2   TMEM230   TMEM239   TMEM74B   TRIB3   UBOX5   VPS16   ZCCHC3   ZNF343  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh3720121,521 - 5,564,937CLINVAR
Cytogenetic Map2020p13-12.3CLINVAR

Additional Information

External Database Links
RGD Object Information
RGD ID: 11541301
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-06-30
Status: ACTIVE


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