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Variant : CV163541 (GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3) Homo sapiens

Symbol: CV163541
Name: GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3
Condition: See cases [RCV000142054]
Clinical Significance: pathogenic
Last Evaluated: 09/18/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AC092809.3   AC092809.5   AIDA   ANGEL2   ATF3   AVPR1B   BATF3   BLACAT1   BPNT1   BROX   C1orf115   C1orf116   C1orf147   C1orf74   C4BPA   C4BPB   CAMK1G   CAPN2   CAPN8   CCDC185   CD34   CD46   CD55   CDK18   CENPF   CNIH3   CNIH3-AS1   CNIH3-AS2   CNIH4   CNTN2   CR1   CR1L   CR2   CTSE   DEGS1   DISP1   DNAH14   DSTYK   DTL   DUSP10   DYRK3   DYRK3-AS1   EIF2D   ELK4   EPRS1   ESRRG   FAM177B   FAM71A   FAM72A   FBXO28   FCAMR   FCMR   FLVCR1   FLVCR1-DT   G0S2   GPATCH2   HHAT   HHIPL2   HLX   HLX-AS1   HSD11B1   HSD11B1-AS1   IARS2   IKBKE   IL10   IL19   IL20   IL24   INTS7   IRF6   KCNH1   KCNH1-IT1   KCNK2   KCTD3   KLHDC8A   LAMB3   LBR   LEMD1   LEMD1-AS1   LEMD1-DT   LINC00210   LINC00467   LINC00538   LINC01352   LINC01653   LINC01655   LINC01693   LINC01696   LINC01698   LINC01710   LINC01717   LINC01740   LINC01774   LINC02257   LINC02474   LINC02602   LINC02608   LINC02767   LINC02769   LINC02771   LINC02773   LINC02779   LINC02817   LINC02869   LOC284581   LPGAT1   LPGAT1-AS1   LYPLAL1   LYPLAL1-AS1   LYPLAL1-DT   MAPKAPK2   MARK1   MFSD4A   MFSD4A-AS1   MIA3   MIR135B   MIR194-1   MIR205   MIR205HG   MIR215   MIR29B2   MIR29B2CHG   MIR29C   MIR3122   MIR320B2   MIR4260   MIR4742   MIR664A   MIR6769B   MTARC1   MTARC2   NEK2   NENF   NFASC   NSL1   NUAK2   NUCKS1   NVL   PACC1   PFKFB2   PIGR   PLXNA2   PM20D1   PPP2R5A   PROX1   PROX1-AS1   PTPN14   RAB29   RAB3GAP2   RAB7B   RASSF5   RBBP5   RCOR3   RD3   RHEX   RPS6KC1   RRP15   SERTAD4   SERTAD4-AS1   SLC26A9   SLC26A9-AS1   SLC30A1   SLC30A10   SLC41A1   SLC45A3   SMYD2   SNORA16B   SNORA36B   SPATA17   SPATA17-AS1   SPATA45   SRGAP2   SUSD4   SYT14   TAF1A   TAF1A-AS1   TATDN3   TGFB2   TGFB2-AS1   TGFB2-OT1   TLR5   TMCC2   TMCC2-AS1   TMEM81   TP53BP2   TRAF3IP3   TRAF5   TRK-TTT8-1   TRT-TGT2-1   USH2A   USH2A-AS1   USH2A-AS2   UTP25   VASH2   WDR26   YOD1   ZC3H11B  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
HGVS Name(s): NC_000001.11:g.(?_204764914)_(225408698_?)dup
Human AssemblyChrPosition (strand)Source
GRCh381204,764,914 - 225,408,698CLINVAR
GRCh371204,734,042 - 225,596,400CLINVAR
Build 361203,000,665 - 223,663,023CLINVAR
Cytogenetic Map11q32.1-42.12CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9489574
Created: 2014-09-09
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.