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Variant : CV362583 (maternal UPD(16p)) Homo sapiens

Symbol: CV362583
Name: maternal UPD(16p)
Condition: Hemimegalencephaly [RCV000494707]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABAT   ABCA3   ABCC1   ABCC6   ACSM1   ACSM2A   ACSM2B   ACSM3   ACSM5   ADCY9   AHSP   ALDOA   ALG1   AMDHD2   ANKS3   ANKS4B   APOBR   AQP8   ARHGAP17   ARL6IP1   ARMC5   ASPHD1   ATF7IP2   ATP2A1   ATP6V0C   ATXN2L   BAIAP3   BCAR4   BCKDK   BCL7C   BFAR   BICDL2   BMERB1   BOLA2   BOLA2B   BRICD5   C16orf54   C16orf58   C16orf71   C16orf72   C16orf82   C16orf89   C16orf90   C16orf91   C16orf92   C16orf96   CACNG3   CARHSP1   CASKIN1   CCDC154   CCDC189   CCNF   CCP110   CD19   CD2BP2   CDIP1   CDIPT   CDR2   CEMP1   CHP2   CIITA   CLCN7   CLDN6   CLDN9   CLEC16A   CLEC19A   CLN3   CLUAP1   COG7   COQ7   CORO1A   CORO7   CORO7-PAM16   COX6A2   CPPED1   CRAMP1   CREBBP   CRYM   CTF1   DCTN5   DCTPP1   DCUN1D3   DEXI   DNAH3   DNAJA3   DNASE1   DNASE1L2   DOC2A   E4F1   EARS2   ECI1   EEF2K   EEF2KMT   EIF3C   EIF3CL   ELOB   EME2   EMP2   ERCC4   ERI2   ERN2   FAHD1   FBRS   FBXL19   FLYWCH1   FLYWCH2   FOPNL   FUS   GDE1   GDPD3   GFER   GGA2   GLIS2   GLYR1   GNPTG   GP2   GPR139   GPRC5B   GRIN2A   GSG1L   GSPT1   GTF3C1   HAGH   HCFC1R1   HIRIP3   HMOX2   HS3ST2   HS3ST4   HS3ST6   HSD3B7   IFT140   IGFALS   IGSF6   IL21R   IL27   IL32   IL4R   INO80E   IQCK   ITGAD   ITGAL   ITGAM   ITGAX   ITPRIPL2   JPT2   KAT8   KCTD13   KCTD5   KDM8   KIAA0556   KIF22   KNOP1   KREMEN2   LAT   LCMT1   LITAF   LYRM1   MAPK3   MAPK8IP3   MARF1   MAZ   MEFV   MEIOB   METTL22   METTL9   MGRN1   MIR1225   MIR193B   MIR365A   MLST8   MMP25   MOSMO   MPV17L   MRPS34   MRTFB   MSRB1   MTRNR2L4   MVP   MYH11   MYLPF   NAA60   NAGPA   NDE1   NDUFAB1   NDUFB10   NFATC2IP   NLRC3   NME3   NMRAL1   NOMO1   NOMO2   NOMO3   NOXO1   NPIPA1   NPIPA2   NPIPA3   NPIPA5   NPIPB3   NPIPB4   NPIPB5   NPIPB6   NPW   NSMCE1   NTAN1   NTHL1   NTN3   NUBP1   NUBP2   NUDT16L1   NUPR1   OR1F1   OR2C1   ORAI3   OTOA   PAGR1   PALB2   PAM16   PAQR4   PARN   PDILT   PDPK1   PDXDC1   PDZD9   PGP   PHKG2   PKD1   PKMYT1   PLA2G10   PLK1   PMM2   POLR3E   PPL   PPP4C   PRKCB   PRM1   PRM2   PRM3   PRR14   PRRT2   PRSS21   PRSS22   PRSS27   PRSS33   PRSS36   PRSS41   PRSS53   PRSS8   PTX4   PYCARD   PYDC1   QPRT   RAB26   RABEP2   RBBP6   RBFOX1   RMI2   RNF151   RNF40   RNPS1   ROGDI   RPL3L   RPS15A   RPS2   RRN3   RSL1D1   SBK1   SCNN1B   SCNN1G   SDR42E2   SEC14L5   SEPHS2   SEPTIN1   SEPTIN12   SETD1A   SEZ6L2   SGF29   SH2B1   SHISA9   SLC5A11   SLC5A2   SLC9A3R2   SLX1A   SLX1B   SLX4   SMG1   SMIM22   SNHG9   SNN   SNX29   SOCS1   SPN   SPNS1   SPSB3   SRCAP   SRL   SRRM2   STX1B   STX4   SULT1A1   SULT1A2   SULT1A3   SULT1A4   SYNGR3   SYT17   TAOK2   TBC1D10B   TBC1D24   TBL3   TBX6   TEDC2   TEKT5   TELO2   TFAP4   TGFB1I1   THOC6   THUMPD1   TIGD7   TLCD3B   TMC5   TMC7   TMEM114   TMEM159   TMEM186   TMEM204   TMEM219   TNFRSF12A   TNFRSF17   TNP2   TNRC6A   TP53TG3   TP53TG3B   TP53TG3C   TP53TG3D   TPSAB1   TPSB2   TPSD1   TRAF7   TRAP1   TRIM72   TSC2   TSR3   TUFM   TVP23A   TXNDC11   UBALD1   UBE2I   UBFD1   UBN1   UMOD   UNKL   UQCRC2   USP31   USP7   VASN   VKORC1   VPS35L   VWA3A   XPO6   XYLT1   YPEL3   ZC3H7A   ZG16   ZG16B   ZKSCAN2   ZNF174   ZNF200   ZNF205   ZNF213   ZNF263   ZNF267   ZNF48   ZNF500   ZNF597   ZNF598   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF720   ZNF747   ZNF75A   ZNF764   ZNF768   ZNF771   ZNF785   ZNF843   ZP2   ZSCAN10   ZSCAN32  
Variant Type: complex (SO:0001784)
Source: CLINVAR
Evidence: research
Position
Human AssemblyChrPosition (strand)Source
GRCh37161,280,042 - 33,710,558CLINVAR
Cytogenetic Map1616p13.3-11.2CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13207601
Created: 2017-08-08
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.