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Variant : CV248095 (GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3) Homo sapiens

Symbol: CV248095
Name: GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3
Condition: See cases [RCV000239954]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: ABHD12   ACSS1   ADAM33   ADRA1D   ANGPT4   ANKEF1   AP5S1   APMAP   ATRN   AVP   BANF2   BFSP1   BMP2   BTBD3   C20orf141   C20orf194   C20orf202   C20orf27   C20orf96   CD93   CDC25B   CDS2   CENPB   CFAP61   CHGB   CPXM1   CRLS1   CRNKL1   CSNK2A1   CST1   CST11   CST2   CST3   CST4   CST5   CST7   CST8   CST9   CST9L   CSTL1   DDRGK1   DEFB126   DEFB127   DEFB128   DEFB129   DEFB132   DSTN   DTD1   DZANK1   EBF4   ENTPD6   ESF1   FAM110A   FASTKD5   FERMT1   FKBP1A   FLRT3   FOXA2   GFRA4   GGTLC1   GINS1   GNRH2   GPCPD1   GZF1   HAO1   HSPA12B   IDH3B   INSM1   ISM1   ITPA   JAG1   KAT14   KIF16B   KIZ   LAMP5   LRRN4   LZTS3   MACROD2   MAVS   MCM8   MGME1   MIR103A2   MIR1292   MKKS   MRPS26   NAA20   NANP   NAPB   NDUFAF5   NINL   NKX2-2   NKX2-4   NOP56   NRSN2   NSFL1C   NXT1   OTOR   OVOL2   OXT   PAK5   PANK2   PAX1   PCED1A   PCNA   PCNA-AS1   PCSK2   PDYN   PET117   PLCB1   PLCB4   POLR3F   PRND   PRNP   PROKR2   PSMF1   PTPRA   PYGB   RAD21L1   RALGAPA2   RASSF2   RBBP9   RBCK1   RIN2   RNF24   RRBP1   RSPO4   SCP2D1   SCP2D1-AS1   SCRT2   SDCBP2   SEC23B   SEL1L2   SHLD1   SIGLEC1   SIRPA   SIRPB1   SIRPB2   SIRPD   SIRPG   SLC23A2   SLC24A3   SLC4A11   SLC52A3   SLX4IP   SMOX   SNAP25   SNPH   SNRPB   SNRPB2   SNX5   SOX12   SPEF1   SPTLC3   SRXN1   SSTR4   STK35   SYNDIG1   TASP1   TBC1D20   TCF15   TGM3   TGM6   THBD   TMC2   TMEM230   TMEM239   TMEM74B   TMX4   TRIB3   TRMT6   UBOX5   VPS16   VSX1   XRN2   ZCCHC3   ZNF133   ZNF337   ZNF343  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372080,198 - 26,075,841CLINVAR
Cytogenetic Map2020p13-11.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 11541434
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-03-31
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.