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Variant : CV804687 (GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3) Homo sapiens

Symbol: CV804687
Name: GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3
Condition: See cases [RCV001007407]
Clinical Significance: pathogenic
Last Evaluated: 02/02/2018
Review Status: criteria provided, single submitter
Related Genes: ABCB10   ACBD3   ACTA1   ACTN2   ADSS2   AGT   AHCTF1   AIDA   AKT3   AL391832.2   ANGEL2   ARF1   ARID4B   ARV1   ATF3   AVPR1B   B3GALNT2   BATF3   BPNT1   BROX   BTNL10   C1orf100   C1orf115   C1orf116   C1orf131   C1orf147   C1orf198   C1orf229   C1orf35   C1orf74   C4BPA   C4BPB   CAMK1G   CAPN2   CAPN8   CAPN9   CATSPERE   CCDC185   CCSAP   CD34   CD46   CD55   CDC42BPA   CDK18   CENPF   CEP170   CHML   CHRM3   CNIH3   CNIH4   CNST   CNTN2   COA6   COG2   COQ8A   COX20   CR1   CR1L   CR2   CTSE   DEGS1   DESI2   DISC1   DISC2   DISP1   DNAH14   DSTYK   DTL   DUSP10   DYRK3   EDARADD   EFCAB2   EGLN1   EIF2D   ELK4   ENAH   EPHX1   EPRS1   ERO1B   ESRRG   ETNK2   EXO1   EXOC8   FAM177B   FAM71A   FAM72A   FAM89A   FBXO28   FCAMR   FCMR   FH   FLVCR1   FLVCR1-DT   FMN2   G0S2   GALNT2   GCSAML   GGPS1   GJC2   GNG4   GNPAT   GOLT1A   GPATCH2   GPR137B   GREM2   GUK1   H2AW   H2BU1   H3-3A   H3-4   HEATR1   HHAT   HHIPL2   HLX   HNRNPU   HSD11B1   IARS2   IBA57   IKBKE   IL10   IL19   IL20   IL24   INTS7   IRF2BP2   IRF6   ITPKB   JMJD4   KCNH1   KCNK1   KCNK2   KCTD3   KIF26B   KISS1   KLHDC8A   KMO   LAMB3   LBR   LEFTY1   LEFTY2   LEMD1   LGALS8   LIN9   LINC00538   LPGAT1   LRRN2   LYPD8   LYPLAL1   LYST   MAP10   MAP1LC3C   MAP3K21   MAPKAPK2   MARK1   MDM4   MFSD4A   MIA3   MIR194-1   MIR205   MIR205HG   MIR215   MIR29B2CHG   MIR29C   MIXL1   MRPL55   MT1HL1   MTARC1   MTARC2   MTR   NEK2   NENF   NFASC   NID1   NLRP3   NSL1   NTPCR   NUAK2   NUCKS1   NUP133   NVL   OBSCN   OPN3   OR11L1   OR13G1   OR14A16   OR14C36   OR14I1   OR1C1   OR2AK2   OR2B11   OR2C3   OR2G2   OR2G3   OR2G6   OR2L13   OR2L2   OR2L3   OR2L5   OR2L8   OR2M2   OR2M3   OR2M4   OR2M5   OR2M7   OR2T1   OR2T10   OR2T11   OR2T12   OR2T2   OR2T27   OR2T29   OR2T3   OR2T33   OR2T34   OR2T35   OR2T4   OR2T5   OR2T6   OR2T8   OR2W3   OR2W5   OR6F1   PACC1   PARP1   PCNX2   PFKFB2   PGBD2   PGBD5   PIGR   PIK3C2B   PLD5   PLEKHA6   PLXNA2   PM20D1   PPP1R15B   PPP2R5A   PROX1   PRSS38   PSEN2   PTPN14   PYCR2   RAB29   RAB3GAP2   RAB4A   RASSF5   RBBP5   RBM34   RCOR3   RD3   REN   RGS7   RHEX   RHOU   RNF187   RPS6KC1   RRP15   RYR2   SCCPDH   SDCCAG8   SDE2   SERTAD4   SH3BP5L   SIPA1L2   SLC26A9   SLC30A1   SLC30A10   SLC35F3   SLC41A1   SLC45A3   SMYD2   SMYD3   SNAP47   SOX13   SPATA17   SPATA45   SPRTN   SRGAP2   SRP9   STUM   SUSD4   SYT14   TAF1A   TAF5L   TARBP1   TATDN3   TBCE   TFB2M   TGFB2   TLR5   TMCC2   TMEM63A   TMEM81   TOMM20   TP53BP2   TRAF3IP3   TRAF5   TRIM11   TRIM17   TRIM58   TRIM67   TSNAX   TTC13   URB2   USH2A   UTP25   VASH2   VN1R5   WDR26   WDR64   WNT3A   WNT9A   YOD1   ZBTB18   ZNF124   ZNF496   ZNF669   ZNF670   ZNF672   ZNF678   ZNF692   ZNF695   ZP4  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371204,045,948 - 249,218,992CLINVAR
Cytogenetic Map11q32.1-44CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 25323750
Created: 2020-04-07
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.