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Variant : CV73790 (GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3) Homo sapiens

Symbol: CV73790
Name: GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3
Condition: Hydronephrosis [RCV000052999]|See cases [RCV000052999]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AAR2   ABALON   ABHD12   ACSS1   ACSS2   ACTL10   ACTR5   ADIG   AHCY   ANKEF1   APMAP   ARHGAP40   ASIP   ASXL1   BANF2   BCL2L1   BCL2L1-AS1   BFSP1   BLCAP   BPI   BPIFA1   BPIFA2   BPIFA3   BPIFB1   BPIFB2   BPIFB3   BPIFB4   BPIFB6   BTBD3   C20orf144   C20orf173   C20orf203   CBFA2T2   CCM2L   CD93   CDK5RAP1   CEP250   CEP250-AS1   CFAP61   CFAP61-AS1   CHMP4B   CNBD2   COMMD7   COX4I2   CPNE1   CRNKL1   CST1   CST11   CST2   CST3   CST4   CST5   CST7   CST8   CST9   CST9L   CSTL1   CTNNBL1   DEFB115   DEFB116   DEFB118   DEFB119   DEFB121   DEFB123   DEFB124   DHX35   DLGAP4   DLGAP4-AS1   DNMT3B   DSN1   DSTN   DTD1   DTD1-AS1   DUSP15   DYNLRB1   DZANK1   E2F1   EDEM2   EFCAB8   EIF2S2   EIF6   ENTPD6   EPB41L1   ERGIC3   ESF1   FAM182A   FAM182B   FAM242A   FAM242B   FAM83C   FAM83C-AS1   FAM83D   FLRT3   FOXA2   FOXS1   GDF5   GDF5-AS1   GGT7   GGTLC1   GHRH   GINS1   GSS   GZF1   HCK   HM13   HM13-AS1   ID1   INSM1   ISM1   ISM1-AS1   ITCH   JAG1   KAT14   KIAA1755   KIF16B   KIF3B   KIZ   KIZ-AS1   LBP   LINC00028   LINC00237   LINC00261   LINC00489   LINC00652   LINC00653   LINC00656   LINC00687   LINC00851   LINC01427   LINC01431   LINC01432   LINC01597   LINC01721   LINC01722   LINC01723   LINC01726   LINC01727   LINC01733   LINC01734   LINC01746   LINC01747   LINC01752   LINC02871   LNCNEF   MACROD2   MACROD2-AS1   MACROD2-IT1   MANBAL   MAP1LC3A   MAPRE1   MGME1   MIR1289-1   MIR1825   MIR3192   MIR3193   MIR4755   MIR499A   MIR499B   MIR548O2   MIR644A   MIR663A   MIR663AHG   MIR6870   MKKS   MMP24   MMP24OS   MROH8   MYH7B   MYL9   MYLK2   NAA20   NANP   NAPB   NCOA6   NDRG3   NDUFAF5   NECAB3   NFS1   NINL   NKX2-2   NKX2-4   NNAT   NOL4L   NOL4L-DT   NORAD   NXT1   OTOR   OVOL2   PAK5   PARAL1   PAX1   PCSK2   PDRG1   PET117   PHF20   PIGU   PLAGL2   POFUT1   POLR3F   PPP1R16B   PROCR   PXMP4   PYGB   RAB5IF   RALGAPA2   RALGAPB   RALY   RALY-AS1   RBBP9   RBL1   RBM12   RBM39   REM1   RIN2   ROMO1   RPN2   RPRD1B   RRBP1   SAMHD1   SCAND1   SCP2D1   SCP2D1-AS1   SEC23B   SEL1L2   SLA2   SLC24A3   SLC32A1   SLX4IP   SMIM26   SNAP25   SNAP25-AS1   SNHG11   SNHG17   SNORA60   SNORA71A   SNORA71B   SNORA71C   SNORA71D   SNORA71E   SNORD17   SNRPB2   SNTA1   SNX5   SOGA1   SPAG4   SPTLC3   SRC   SSTR4   SUN5   SYNDIG1   TASP1   TGIF2   TGIF2-RAB5IF   TGM2   THBD   TLDC2   TM9SF4   TP53INP2   TPX2   TRPC4AP   TTI1   TTLL9   UQCC1   VSTM2L   VSX1   XKR7   XRN2   ZNF133   ZNF337   ZNF337-AS1   ZNF341   ZNF341-AS1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000020.10:g.(?_9792081)_(37945599_?)dup
NC_000020.9:g.(?_9740081)_(37379013_?)dup
NC_000020.11:g.(?_9811433)_(39316956_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38209,811,433 - 39,316,956CLINVAR
GRCh37209,792,081 - 37,945,599CLINVAR
Build 36209,740,081 - 37,379,013CLINVAR
Cytogenetic Map2020p12.2-q12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8619964
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-11-05
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.