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Variant : CV436788 (GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3) Homo sapiens

Symbol: CV436788
Name: GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3
Condition: See cases [RCV000511622]
Clinical Significance: uncertain significance
Last Evaluated: 06/23/2014
Review Status: no assertion criteria provided
Related Genes: AARS1   ABCC1   ABCC11   ABCC12   ABCC6   ACD   ACSF3   ACSM1   ACSM2A   ACSM2B   ACSM3   ACSM5   ADAD2   ADAMTS18   ADAT1   ADCY7   ADGRG1   ADGRG3   ADGRG5   AGRP   AHSP   AKTIP   ALDOA   AMFR   ANKRD11   ANKS4B   AP1G1   APOBR   APRT   AQP8   ARHGAP17   ARL2BP   ARL6IP1   ARMC5   ASPHD1   ATF7IP2   ATMIN   ATP2A1   ATP2C2   ATP6V0D1   ATXN1L   ATXN2L   B3GNT9   BANP   BBS2   BCAR1   BCAR4   BCKDK   BCL7C   BCO1   BEAN1   BFAR   BMERB1   BOLA2   BOLA2B   BRD7   C16orf46   C16orf54   C16orf58   C16orf70   C16orf74   C16orf78   C16orf82   C16orf86   C16orf87   C16orf92   C16orf95   C16orf97   CA5A   CA7   CACNG3   CALB2   CAPNS2   CARMIL2   CBFA2T3   CBFB   CBLN1   CCDC102A   CCDC113   CCDC189   CCL17   CCL22   CCNYL3   CCP110   CD19   CD2BP2   CDH1   CDH11   CDH13   CDH15   CDH16   CDH3   CDH5   CDH8   CDIPT   CDR2   CDT1   CDYL2   CENPN   CENPT   CES1   CES2   CES3   CES4A   CES5A   CETP   CFAP20   CFDP1   CHD9   CHP2   CHST4   CHST5   CHST6   CHTF8   CIAO2B   CIAPIN1   CIITA   CKLF   CKLF-CMTM1   CLEC16A   CLEC18A   CLEC18B   CLEC18C   CLEC19A   CLEC3A   CLN3   CMC2   CMIP   CMTM1   CMTM2   CMTM3   CMTM4   CMTR2   CNEP1R1   CNGB1   CNOT1   CNTNAP4   COG4   COG7   COG8   COQ7   COQ9   CORO1A   COTL1   COX4I1   COX6A2   CPNE2   CPPED1   CRISPLD2   CRYM   CSNK2A2   CTCF   CTF1   CTRB1   CTRB2   CTRL   CTU2   CX3CL1   CYB5B   CYBA   CYLD   DCTN5   DCTPP1   DCUN1D3   DDX19A   DDX19B   DDX28   DEXI   DHODH   DHX38   DNAAF1   DNAH3   DNAJA2   DOC2A   DOK4   DPEP2   DPEP3   DRC7   DUS2   DYNC1LI2   DYNLRB2   E2F4   EARS2   EDC4   EEF2K   EIF3C   EIF3CL   ELMO3   EMC8   EMP2   ENKD1   ERCC4   ERI2   ERN2   ESRP2   EXOC3L1   EXOSC6   FA2H   FAM92B   FBRS   FBXL19   FBXL8   FBXO31   FCSK   FENDRR   FHOD1   FOPNL   FOXC2   FOXF1   FOXL1   FTO   FUS   GABARAPL2   GALNS   GAN   GCSH   GDE1   GDPD3   GFOD2   GGA2   GINS2   GINS3   GLG1   GNAO1   GOT2   GP2   GPR139   GPRC5B   GPT2   GRIN2A   GSE1   GSG1L   GSPT1   GTF3C1   HAS3   HEATR3   HERPUD1   HIRIP3   HP   HPR   HS3ST2   HS3ST4   HSBP1   HSD11B2   HSD17B2   HSD3B7   HSDL1   HSF4   HYDIN   IGSF6   IL17C   IL21R   IL27   IL34   IL4R   INO80E   IQCK   IRF8   IRX3   IRX5   IRX6   IST1   ITFG1   ITGAD   ITGAL   ITGAM   ITGAX   ITPRIPL2   JPH3   KARS1   KAT8   KATNB1   KCNG4   KCTD13   KCTD19   KDM8   KIAA0513   KIAA0556   KIAA0895L   KIF22   KIFC3   KLHDC4   KLHL36   KNOP1   LAT   LCAT   LCMT1   LDHD   LINC01082   LITAF   LONP2   LPCAT2   LRRC29   LRRC36   LYRM1   MAF   MAP1LC3B   MAPK3   MARF1   MARVELD3   MAZ   MBTPS1   MEAK7   METTL9   MIR138-2   MIR140   MIR193B   MIR328   MIR365A   MLKL   MLYCD   MMP15   MMP2   MON1B   MOSMO   MPHOSPH6   MPV17L   MRTFB   MT1A   MT1B   MT1E   MT1F   MT1G   MT1H   MT1M   MT1X   MT2A   MT3   MT4   MTHFSD   MTSS2   MVD   MVP   MYH11   MYLK3   MYLPF   N4BP1   NAE1   NDE1   NDRG4   NDUFAB1   NECAB2   NETO2   NFAT5   NFATC2IP   NFATC3   NIP7   NKD1   NLRC5   NOB1   NOD2   NOL3   NOMO1   NOMO2   NOMO3   NPIPA1   NPIPA2   NPIPA3   NPIPA5   NPIPB15   NPIPB3   NPIPB4   NPIPB5   NPIPB6   NQO1   NRN1L   NSMCE1   NTAN1   NUBP1   NUDT21   NUDT7   NUP93   NUPR1   NUTF2   OGFOD1   ORAI3   ORC6   OSGIN1   OTOA   PABPN1L   PAGR1   PALB2   PARD6A   PARN   PDF   PDILT   PDP2   PDPR   PDXDC1   PDZD9   PHKB   PHKG2   PHLPP2   PIEZO1   PKD1L2   PKD1L3   PLA2G10   PLA2G15   PLCG2   PLEKHG4   PLK1   PLLP   PMFBP1   POLR2C   POLR3E   PPP4C   PRKCB   PRM1   PRM2   PRM3   PRMT7   PRR14   PRRT2   PRSS36   PRSS53   PRSS54   PRSS8   PSKH1   PSMB10   PSMD7   PSME3IP1   PYCARD   PYDC1   QPRT   RABEP2   RANBP10   RBBP6   RBL2   RFWD3   RIPOR1   RMI2   RNF166   RNF40   RPGRIP1L   RPS15A   RRAD   RRN3   RSL1D1   RSPRY1   SALL1   SBK1   SCNN1B   SCNN1G   SDR42E1   SDR42E2   SEPHS2   SEPTIN1   SETD1A   SETD6   SEZ6L2   SF3B3   SGF29   SH2B1   SHCBP1   SHISA9   SIAH1   SLC12A3   SLC12A4   SLC22A31   SLC38A7   SLC38A8   SLC5A11   SLC5A2   SLC6A2   SLC7A5   SLC7A6   SLC7A6OS   SLC9A5   SLX1A   SLX1B   SMG1   SMPD3   SNAI3   SNN   SNTB2   SNX20   SNX29   SOCS1   SPN   SPNS1   SRCAP   ST3GAL2   STX1B   STX4   SULT1A1   SULT1A2   SULT1A3   SULT1A4   SYCE1L   SYT17   TAF1C   TANGO6   TAOK2   TAT   TBC1D10B   TBX6   TEKT5   TENT4B   TEPP   TERB1   TERF2   TERF2IP   TGFB1I1   THAP11   THUMPD1   TK2   TLCD3B   TMC5   TMC7   TMED6   TMEM159   TMEM170A   TMEM208   TMEM219   TMEM231   TNFRSF17   TNP2   TNRC6A   TOX3   TP53TG3   TP53TG3B   TP53TG3C   TP53TG3D   TPPP3   TRADD   TRAPPC2L   TRIM72   TSNAXIP1   TUFM   TVP23A   TXNDC11   TXNL4B   UBFD1   UMOD   UQCRC2   USB1   USP10   USP31   UTP4   VAC14   VAT1L   VKORC1   VPS35   VPS35L   VPS4A   VWA3A   WDR59   WFDC1   WWOX   WWP2   XPO6   XYLT1   YPEL3   ZC3H18   ZC3H7A   ZCCHC14   ZDHHC1   ZDHHC7   ZFHX3   ZFP1   ZFP90   ZFPM1   ZG16   ZKSCAN2   ZNF19   ZNF23   ZNF267   ZNF319   ZNF423   ZNF469   ZNF48   ZNF629   ZNF646   ZNF668   ZNF688   ZNF689   ZNF720   ZNF747   ZNF764   ZNF768   ZNF771   ZNF778   ZNF785   ZNF821   ZNF843   ZNRF1   ZP2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37169,273,328 - 89,548,493CLINVAR
Cytogenetic Map1616p13.2-q24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13444592
Created: 2017-11-07
Species: Homo sapiens
Last Modified: 2019-11-12
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.