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Variant : CV436534 (GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3) Homo sapiens

Symbol: CV436534
Name: GRCh37/hg19 16p13.3-12.3(chr16:85880-19806921)x3
Condition: See cases [RCV000512194]
Clinical Significance: pathogenic
Last Evaluated: 02/24/2015
Review Status: no assertion criteria provided
Related Genes: ABAT   ABCA3   ABCC1   ABCC6   ADCY9   ALG1   AMDHD2   ANKS3   ANTKMT   ARHGDIG   ARL6IP1   ATF7IP2   ATP6V0C   AXIN1   BAIAP3   BCAR4   BFAR   BICDL2   BMERB1   BRICD5   C16orf71   C16orf72   C16orf89   C16orf90   C16orf91   C16orf96   C1QTNF8   CACNA1H   CAPN15   CARHSP1   CASKIN1   CCDC154   CCDC78   CCNF   CCP110   CDIP1   CEMP1   CHTF18   CIAO3   CIITA   CLCN7   CLDN6   CLDN9   CLEC16A   CLEC19A   CLUAP1   COQ7   CORO7   CORO7-PAM16   CPPED1   CRAMP1   CREBBP   DECR2   DEXI   DNAJA3   DNASE1   DNASE1L2   E4F1   ECI1   EEF2KMT   ELOB   EME2   EMP2   ERCC4   FAHD1   FAM234A   FBXL16   FLYWCH1   FLYWCH2   FOPNL   GDE1   GFER   GLIS2   GLYR1   GNG13   GNPTG   GRIN2A   GSPT1   HAGH   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   HCFC1R1   HMOX2   HS3ST6   IFT140   IGFALS   IL32   IQCK   ITPRIPL2   JMJD8   JPT2   KCTD5   KNOP1   KREMEN2   LITAF   LMF1   LUC7L   MAPK8IP3   MARF1   MCRIP2   MEFV   MEIOB   METRN   METTL22   METTL26   MGRN1   MIR1225   MIR193B   MIR365A   MLST8   MMP25   MPG   MPV17L   MRPL28   MRPS34   MRTFB   MSLN   MSRB1   MTRNR2L4   MYH11   NAA60   NAGPA   NDE1   NDUFB10   NHLRC4   NLRC3   NME3   NME4   NMRAL1   NOMO1   NOMO2   NOMO3   NOXO1   NPIPA1   NPIPA2   NPIPA3   NPIPA5   NPRL3   NPW   NTAN1   NTHL1   NTN3   NUBP1   NUBP2   NUDT16L1   OR1F1   OR2C1   PAM16   PAQR4   PARN   PDIA2   PDPK1   PDXDC1   PGAP6   PGP   PIGQ   PKD1   PKMYT1   PLA2G10   PMM2   POLR3K   PPL   PRM1   PRM2   PRM3   PRR25   PRR35   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   PTX4   RAB11FIP3   RAB26   RAB40C   RBFOX1   RGS11   RHBDF1   RHBDL1   RHOT2   RMI2   RNF151   RNPS1   ROGDI   RPL3L   RPS15A   RPS2   RPUSD1   RRN3   RSL1D1   SEC14L5   SEPTIN12   SHISA9   SLC9A3R2   SLX4   SMG1   SMIM22   SNHG9   SNN   SNRNP25   SNX29   SOCS1   SOX8   SPSB3   SRL   SRRM2   SSTR5   STUB1   SYNGR3   SYT17   TBC1D24   TBL3   TEDC2   TEKT5   TELO2   TFAP4   THOC6   TIGD7   TMC5   TMC7   TMEM114   TMEM186   TMEM204   TNFRSF12A   TNFRSF17   TNP2   TPSAB1   TPSB2   TPSD1   TPSG1   TRAF7   TRAP1   TSC2   TSR3   TVP23A   TXNDC11   UBALD1   UBE2I   UBN1   UNKL   USP7   VASN   VPS35L   WDR24   WDR90   WFIKKN1   XYLT1   ZC3H7A   ZG16B   ZNF174   ZNF200   ZNF205   ZNF213   ZNF263   ZNF500   ZNF597   ZNF598   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371685,880 - 19,806,921CLINVAR
Cytogenetic Map1616p13.3-12.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13463033
Created: 2017-12-12
Species: Homo sapiens
Last Modified: 2019-12-03
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.