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Variant : CV435876 (GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3) Homo sapiens

Symbol: CV435876
Name: GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3
Condition: See cases [RCV000512511]
Clinical Significance: pathogenic
Last Evaluated: 03/16/2015
Review Status: no assertion criteria provided
Related Genes: AARS1   ACD   ACSF3   ADAD2   ADAMTS18   ADAT1   ADGRG1   ADGRG3   ADGRG5   AGRP   ANKRD11   AP1G1   APRT   ARL2BP   ATMIN   ATP2C2   ATP6V0D1   ATXN1L   B3GNT9   BANP   BCAR1   BCO1   BEAN1   C16orf46   C16orf70   C16orf74   C16orf86   C16orf95   CA5A   CA7   CALB2   CARMIL2   CBFA2T3   CBFB   CCDC102A   CCDC113   CCL17   CCL22   CDH1   CDH11   CDH13   CDH15   CDH16   CDH3   CDH5   CDH8   CDK10   CDT1   CDYL2   CENPN   CENPT   CES2   CES3   CES4A   CFAP20   CFDP1   CHMP1A   CHST4   CHST5   CHST6   CHTF8   CIAO2B   CIAPIN1   CKLF   CKLF-CMTM1   CLEC18A   CLEC18B   CLEC18C   CLEC3A   CMC2   CMIP   CMTM1   CMTM2   CMTM3   CMTM4   CMTR2   CNGB1   CNOT1   CNTNAP4   COG4   COG8   COQ9   COTL1   COX4I1   CPNE2   CPNE7   CRISPLD2   CSNK2A2   CTCF   CTRB1   CTRB2   CTRL   CTU2   CX3CL1   CYB5B   CYBA   DDX19A   DDX19B   DDX28   DHODH   DHX38   DNAAF1   DOK4   DPEP1   DPEP2   DPEP3   DRC7   DUS2   DYNC1LI2   DYNLRB2   E2F4   EDC4   ELMO3   EMC8   ENKD1   ESRP2   EXOC3L1   EXOSC6   FA2H   FAM92B   FBXL8   FBXO31   FCSK   FENDRR   FHOD1   FOXC2   FOXF1   FOXL1   GABARAPL2   GALNS   GAN   GCSH   GFOD2   GINS2   GINS3   GLG1   GOT2   GSE1   HAS3   HP   HPR   HSBP1   HSD11B2   HSD17B2   HSDL1   HSF4   HYDIN   IL17C   IL34   IRF8   IST1   JPH3   KARS1   KATNB1   KCNG4   KCTD19   KIAA0513   KIAA0895L   KIFC3   KLHDC4   KLHL36   LCAT   LDHD   LINC01082   LRRC29   LRRC36   MAF   MAP1LC3B   MARVELD3   MBTPS1   MEAK7   MIR140   MIR328   MLKL   MLYCD   MMP15   MON1B   MPHOSPH6   MTHFSD   MTSS2   MVD   NAE1   NDRG4   NECAB2   NFAT5   NFATC3   NIP7   NLRC5   NOB1   NOL3   NPIPB15   NQO1   NRN1L   NUDT7   NUTF2   OSGIN1   PABPN1L   PARD6A   PDF   PDP2   PDPR   PHLPP2   PIEZO1   PKD1L2   PKD1L3   PLA2G15   PLCG2   PLEKHG4   PLLP   PMFBP1   POLR2C   PRMT7   PRSS54   PSKH1   PSMB10   PSMD7   PSME3IP1   RANBP10   RFWD3   RIPOR1   RNF166   RPL13   RRAD   RSPRY1   SDR42E1   SETD6   SF3B3   SLC12A4   SLC22A31   SLC38A7   SLC38A8   SLC7A5   SLC7A6   SLC7A6OS   SLC9A5   SMPD3   SNAI3   SNTB2   SPATA2L   SPATA33   SPG7   ST3GAL2   SYCE1L   TAF1C   TANGO6   TAT   TEPP   TERB1   TERF2   TERF2IP   THAP11   TK2   TMED6   TMEM170A   TMEM208   TMEM231   TPPP3   TRADD   TRAPPC2L   TSNAXIP1   TXNL4B   USB1   USP10   UTP4   VAC14   VAT1L   VPS4A   VPS9D1   WDR59   WFDC1   WWOX   WWP2   ZC3H18   ZCCHC14   ZDHHC1   ZDHHC7   ZFHX3   ZFP1   ZFP90   ZFPM1   ZNF19   ZNF23   ZNF276   ZNF319   ZNF469   ZNF778   ZNF821   ZNRF1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh371657,051,473 - 89,797,669CLINVAR
Cytogenetic Map1616q13-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13445473
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.