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Variant : CV160035 (GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3) Homo sapiens

Symbol: CV160035
Name: GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3
Condition: See cases [RCV000139166]
Clinical Significance: pathogenic
Last Evaluated: 09/21/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABAT   ABCA3   ADCY9   ALG1   AMDHD2   ANKS3   ANTKMT   ARHGDIG   ATF7IP2   ATP6V0C   AXIN1   BAIAP3   BCAR4   BICDL2   BRICD5   C16orf71   C16orf72   C16orf89   C16orf90   C16orf91   C16orf96   C1QTNF8   CACNA1H   CAPN15   CARHSP1   CASKIN1   CCDC154   CCDC78   CCNF   CDIP1   CEMP1   CHTF18   CIAO3   CIITA   CLCN7   CLDN6   CLDN9   CLEC16A   CLUAP1   CORO7   CORO7-PAM16   CPPED1   CRAMP1   CREBBP   DECR2   DEXI   DNAJA3   DNASE1   DNASE1L2   E4F1   ECI1   EEF2KMT   ELOB   EME2   EMP2   ERVK13-1   FAHD1   FAM234A   FBXL16   FLYWCH1   FLYWCH2   GFER   GLIS2   GLIS2-AS1   GLYR1   GNG13   GNPTG   GRIN2A   GSPT1   HAGH   HAGHL   HBA1   HBA2   HBM   HBQ1   HBZ   HCFC1R1   HMOX2   HS3ST6   IFT140   IGFALS   IL32   JMJD8   JPT2   KCTD5   KREMEN2   LINC00235   LINC00254   LINC00514   LINC00921   LINC01177   LINC01195   LINC01290   LINC01569   LINC01570   LINC02124   LINC02152   LINC02164   LINC02177   LINC02861   LITAF   LITAFD   LMF1   LMF1-AS1   LOC400499   LUC7L   MAPK8IP3   MCRIP2   MEFV   MEIOB   METRN   METTL22   METTL26   MGRN1   MIR1225   MIR3176   MIR3177   MIR3178   MIR3180-5   MIR3677   MIR4516   MIR4717   MIR4718   MIR548H2   MIR5587   MIR6126   MIR6511B1   MIR662   MIR6767   MIR6768   MIR6769A   MIR8065   MIR940   MLST8   MMP25   MMP25-AS1   MPG   MRPL28   MRPS34   MSLN   MSRB1   MTRNR2L4   NAA60   NAGPA   NAGPA-AS1   NDUFB10   NHLRC4   NLRC3   NME3   NME4   NMRAL1   NOXO1   NPIPB2   NPRL3   NPW   NTHL1   NTN3   NUBP1   NUBP2   NUDT16L1   OR1F1   OR2C1   PAM16   PAQR4   PDIA2   PDPK1   PERCC1   PGAP6   PGP   PIGQ   PKD1   PKMYT1   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   RPS2   RPUSD1   RSL1D1   SEC14L5   SEPTIN12   SHISA9   SLC9A3R2   SLX4   SMIM22   SNHG19   SNHG9   SNN   SNORA10   SNORA3C   SNORA64   SNORA78   SNORD60   SNRNP25   SNX29   SOCS1   SOX8   SPSB3   SRL   SRRM2   SRRM2-AS1   SSTR5   SSTR5-AS1   STUB1   SYNGR3   TBC1D24   TBL3   TEDC2   TEKT5   TELO2   TFAP4   THOC6   TIGD7   TMEM114   TMEM186   TMEM204   TNFRSF12A   TNFRSF17   TNP2   TPSAB1   TPSB2   TPSD1   TPSG1   TRAF7   TRAP1   TRG-CCC2-2   TRK-CTT2-5   TRK-CTT3-1   TRK-CTT4-1   TRK-CTT5-1   TRP-AGG1-1   TRP-AGG2-7   TRP-AGG2-8   TRP-CGG1-2   TRP-TGG3-3   TRP-TGG3-4   TRP-TGG3-5   TRR-CCG1-3   TRR-CCT3-1   TRR-CCT5-1   TSC2   TSR3   TVP23A   TXNDC11   UBALD1   UBE2I   UBN1   UNKL   USP7   VASN   WDR24   WDR90   WFIKKN1   ZC3H7A   ZG16B   ZNF174   ZNF200   ZNF205   ZNF205-AS1   ZNF213   ZNF213-AS1   ZNF263   ZNF500   ZNF597   ZNF598   ZNF75A   ZSCAN10   ZSCAN32  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_43732)_(13326806_?)dup
NC_000016.9:g.(?_93732)_(13420663_?)dup
NC_000016.8:g.(?_33732)_(13328164_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381643,732 - 13,326,806CLINVAR
GRCh371693,732 - 13,420,663CLINVAR
Build 361633,732 - 13,328,164CLINVAR
Cytogenetic Map1616p13.3-13.12CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9486698
Created: 2014-09-09
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.