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Variant : CV164009 (GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3) Homo sapiens

Symbol: CV164009
Name: GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3
Condition: See cases [RCV000142340]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: A4GNT   ABHD10   ABI3BP   ABTB1   ACAD11   ACAD9   ACKR4   ACP3   ADCY5   ADGRG7   ADPRH   ALCAM   ALDH1L1   ALDH1L1-AS1   ALDH1L1-AS2   ALG1L   ALG1L2   AMOTL2   ANAPC13   ARGFX   ARHGAP31   ARHGAP31-AS1   ARL13B   ARL6   ARMC8   ASTE1   ATG3   ATP1B3   ATP2C1   ATP6V1A   ATR   B4GALT4   B4GALT4-AS1   BBX   BFSP2   BFSP2-AS1   BOC   BPESC1   BTLA   C3orf22   C3orf36   C3orf52   C3orf56   C3orf85   CASR   CBLB   CCDC14   CCDC191   CCDC37-DT   CCDC54   CCDC58   CCDC80   CD200   CD200R1   CD200R1L   CD200R1L-AS1   CD47   CD80   CD86   CD96   CDV3   CEP63   CEP70   CEP97   CFAP100   CFAP44   CFAP44-AS1   CFAP91   CFAP92   CHCHD6   CHST13   CHST2   CIP2A   CLDN18   CLDND1   CLSTN2   CLSTN2-AS1   CMSS1   CNBP   COL6A5   COL6A6   COL8A1   COPB2   COPG1   COX17   CPNE4   CPOX   CRYBG3   CSTA   DBR1   DCBLD2   DHFR2   DIPK2A   DNAJB8   DNAJB8-AS1   DNAJC13   DPPA2   DPPA4   DRD3   DTX3L   DUBR   DZIP1L   DZIP3   EAF2   EEFSEC   EFCAB12   EFCC1   EPHA6   EPHB1   ESYT3   FAIM   FAM162A   FBXO40   FILIP1L   FOXL2   FOXL2NB   FSTL1   GABRR3   GAP43   GATA2   GATA2-AS1   GCSAM   GK5   GOLGB1   GP9   GPR15   GPR156   GRAMD1C   GRK7   GSK3B   GTF2E1   GTPBP8   GUCA1C   H1-10   H1-10-AS1   H1-8   HACD2   HCLS1   HEG1   HGD   HHLA2   HMCES   HSPBAP1   IFT122   IFT57   IGSF11   IGSF11-AS1   IL20RB   IL20RB-AS1   ILDR1   IMPG2   IQCB1   ISY1   ISY1-RAB43   ITGB5   KALRN   KBTBD12   KLF15   KPNA1   KY   LINC00488   LINC00635   LINC00636   LINC00879   LINC00882   LINC00901   LINC00903   LINC01205   LINC01210   LINC01215   LINC01391   LINC01471   LINC01565   LINC01990   LINC02000   LINC02004   LINC02014   LINC02016   LINC02021   LINC02024   LINC02035   LINC02042   LINC02044   LINC02049   LINC02085   LINC02614   LINC02618   LNP1   LRRC58   LSAMP   LSAMP-AS1   MBD4   MCM2   MGLL   MIR12124   MIR198   MIR3921   MIR4445   MIR4446   MIR4447   MIR4788   MIR4796   MIR5002   MIR5092   MIR544B   MIR548AB   MIR548I1   MIR567   MIR568   MIR5682   MIR5704   MIR6083   MIR6529   MIR6825   MIR6826   MIR6827   MIR7110   MIR7976   MIR8060   MIR8076   MIR9900   MORC1   MORC1-AS1   MRAS   MRPL3   MRPS22   MSL2   MUC13   MYH15   MYLK   MYLK-AS1   MYLK-AS2   NAA50   NCK1   NCK1-DT   NDUFB4   NECTIN3   NECTIN3-AS1   NEK11   NEPRO   NFKBIZ   NIT2   NME9   NMNAT3   NPHP3   NPHP3-ACAD11   NPHP3-AS1   NR1I2   NSUN3   NUDT16   NXPE3   OR5AC2   OR5H1   OR5H14   OR5H15   OR5H2   OR5H6   OR5K1   OR5K2   OR5K3   OR5K4   OSBPL11   PAQR9   PAQR9-AS1   PARP14   PARP15   PARP9   PCCB   PCNP   PCOLCE2   PDIA5   PHLDB2   PIK3CB   PIK3R4   PISRT1   PLA1A   PLCXD2   PLCXD2-AS1   PLS1   PLXNA1   PLXND1   PODXL2   POGLUT1   POLQ   POPDC2   PPP2R3A   PROS1   PRR20G   PRR23A   PRR23B   PRR23C   PXYLP1   QTRT2   RAB43   RAB6B   RAB7A   RABL3   RASA2   RBP1   RBP2   RETNLB   RHO   RIOX2   RNF7   ROPN1   ROPN1B   RPL24   RPN1   RUVBL1   RUVBL1-AS1   RYK   SEC22A   SEC61A1   SEMA5B   SENP7   SIDT1   SLC12A8   SLC15A2   SLC25A36   SLC35A5   SLC35G2   SLC41A3   SLC49A4   SLC9A9   SLC9A9-AS1   SLC9C1   SLCO2A1   SNORA58   SNORA7B   SNORD155   SNX4   SOX14   SPICE1   SPSB4   SRPRB   ST3GAL6   ST3GAL6-AS1   STAG1   STX19   STXBP5L   TAGLN3   TBC1D23   TBILA   TEX55   TF   TFDP2   TFG   TIGIT   TIMMDC1   TMCC1   TMCC1-AS1   TMEM108   TMEM108-AS1   TMEM39A   TMEM45A   TMPRSS7   TOMM70   TOPBP1   TPRA1   TRAT1   TRC-GCA6-1   TRC-GCA9-1   TRH   TRIM42   TRMT10C   TRPC1   TUSC7   TXNRD3   U2SURP   UBA5   UMPS   UPK1B   UROC1   USF3   WDR5B   XRN1   ZBED2   ZBTB11   ZBTB11-AS1   ZBTB20   ZBTB20-AS1   ZBTB20-AS3   ZBTB20-AS4   ZBTB20-AS5   ZBTB38   ZDHHC23   ZNF148   ZNF80   ZPLD1   ZXDC  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_93800620)_(145695381_?)dup
NC_000003.11:g.(?_93519464)_(145413168_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38393,800,620 - 145,695,381CLINVAR
GRCh37393,519,464 - 145,413,168CLINVAR
Build 36395,002,154 - 146,895,858CLINVAR
Cytogenetic Map33q11.1-24CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9489859
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-05-19
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.