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Variant : CV437139 (GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3) Homo sapiens

Symbol: CV437139
Name: GRCh37/hg19 16p13.3-13.2(chr16:85880-9883129)x3
Condition: See cases [RCV000510698]
Clinical Significance: pathogenic
Last Evaluated: 07/07/2014
Review Status: no assertion criteria provided
Related Genes: ABAT   ABCA3   ADCY9   ALG1   AMDHD2   ANKS3   ANTKMT   ARHGDIG   ATP6V0C   AXIN1   BAIAP3   BICDL2   BRICD5   C16orf71   C16orf72   C16orf89   C16orf90   C16orf91   C16orf96   C1QTNF8   CACNA1H   CAPN15   CARHSP1   CASKIN1   CCDC154   CCDC78   CCNF   CDIP1   CEMP1   CHTF18   CIAO3   CLCN7   CLDN6   CLDN9   CLUAP1   CORO7   CORO7-PAM16   CRAMP1   CREBBP   DECR2   DNAJA3   DNASE1   DNASE1L2   E4F1   ECI1   EEF2KMT   ELOB   EME2   FAHD1   FAM234A   FBXL16   FLYWCH1   FLYWCH2   GFER   GLIS2   GLYR1   GNG13   GNPTG   GRIN2A   HAGH   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   HCFC1R1   HMOX2   HS3ST6   IFT140   IGFALS   IL32   JMJD8   JPT2   KCTD5   KREMEN2   LMF1   LUC7L   MAPK8IP3   MCRIP2   MEFV   MEIOB   METRN   METTL22   METTL26   MGRN1   MIR1225   MLST8   MMP25   MPG   MRPL28   MRPS34   MSLN   MSRB1   MTRNR2L4   NAA60   NAGPA   NDUFB10   NHLRC4   NLRC3   NME3   NME4   NMRAL1   NOXO1   NPRL3   NPW   NTHL1   NTN3   NUBP2   NUDT16L1   OR1F1   OR2C1   PAM16   PAQR4   PDIA2   PDPK1   PGAP6   PGP   PIGQ   PKD1   PKMYT1   PMM2   POLR3K   PPL   PRR25   PRR35   PRSS21   PRSS22   PRSS27   PRSS33   PRSS41   PTX4   RAB11FIP3   RAB26   RAB40C   RBFOX1   RGS11   RHBDF1   RHBDL1   RHOT2   RNF151   RNPS1   ROGDI   RPL3L   RPS2   RPUSD1   SEC14L5   SEPTIN12   SLC9A3R2   SLX4   SMIM22   SNHG9   SNRNP25   SOX8   SPSB3   SRL   SRRM2   SSTR5   STUB1   SYNGR3   TBC1D24   TBL3   TEDC2   TELO2   TFAP4   THOC6   TIGD7   TMEM114   TMEM186   TMEM204   TNFRSF12A   TPSAB1   TPSB2   TPSD1   TPSG1   TRAF7   TRAP1   TSC2   TSR3   UBALD1   UBE2I   UBN1   UNKL   USP7   VASN   WDR24   WDR90   WFIKKN1   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 - 9,883,129CLINVAR
Cytogenetic Map1616p13.3-13.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13463027
Created: 2017-12-12
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.