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Variant : CV165112 (GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3) Homo sapiens

Symbol: CV165112
Name: GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3
Condition: See cases [RCV000143425]
Clinical Significance: pathogenic
Last Evaluated: 05/07/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARS1   ACD   ACSF3   ADAD2   ADAMTS18   ADAT1   ADGRG1   ADGRG3   ADGRG5   AGRP   AKTIP   AMFR   ANKRD11   AP1G1   APRT   ARL2BP   ARLNC1   ATMIN   ATP2C2   ATP2C2-AS1   ATP6V0D1   ATXN1L   B3GNT9   BANP   BBS2   BCAR1   BCO1   BEAN1   BEAN1-AS1   C16orf46   C16orf70   C16orf74   C16orf86   C16orf95   CA5A   CA7   CALB2   CAPNS2   CARMIL2   CBFA2T3   CBFB   CCDC102A   CCDC113   CCL17   CCL22   CDH1   CDH11   CDH13   CDH15   CDH16   CDH3   CDH5   CDH8   CDK10   CDT1   CDYL2   CENPBD1   CENPN   CENPT   CES1   CES2   CES3   CES4A   CES5A   CETP   CFAP20   CFDP1   CHD9   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   CPHXL   CPNE2   CPNE7   CRISPLD2   CRNDE   CSNK2A2   CTCF   CTRB1   CTRB2   CTRL   CTU2   CX3CL1   CYB5B   CYBA   DBNDD1   DDX19A   DDX19B   DDX28   DEF8   DERPC   DHODH   DHX38   DNAAF1   DOK4   DPEP1   DPEP2   DPEP2NB   DPEP3   DRC7   DUS2   DUXB   DYNC1LI2   DYNLRB2   E2F4   EDC4   ELMO3   EMC8   ENKD1   ESRP2   EXOC3L1   EXOSC6   FA2H   FAM92B   FANCA   FBXL8   FBXO31   FCSK   FENDRR   FHOD1   FOXC2   FOXC2-AS1   FOXF1   FOXL1   FTO   FTO-IT1   GABARAPL2   GALNS   GAN   GAS8   GAS8-AS1   GCSH   GFOD2   GINS2   GINS3   GLG1   GNAO1   GOT2   GSE1   HAS3   HCCAT5   HERPUD1   HP   HPR   HSBP1   HSD11B2   HSD17B2   HSDL1   HSF4   HYDIN   IL17C   IL34   IRF8   IRX3   IRX5   IRX6   IST1   JPH3   KARS1   KATNB1   KCNG4   KCTD19   KIAA0513   KIAA0895L   KIFC3   KLHDC4   KLHL36   LCAT   LDHD   LINC00304   LINC00311   LINC00917   LINC00920   LINC00922   LINC01081   LINC01082   LINC01227   LINC01229   LINC01568   LINC01572   LINC02125   LINC02126   LINC02131   LINC02135   LINC02136   LINC02137   LINC02138   LINC02139   LINC02140   LINC02141   LINC02166   LINC02169   LINC02176   LINC02181   LINC02182   LINC02188   LINC02189   LOC100289580   LOC339059   LPCAT2   LRRC29   LRRC36   MAF   MAFTRR   MAP1LC3B   MARVELD3   MBTPS1   MC1R   MEAK7   MIR11401   MIR12128   MIR138-2   MIR140   MIR1538   MIR1910   MIR1972-2   MIR3182   MIR328   MIR3935   MIR4719   MIR4720   MIR4722   MIR5093   MIR5189   MIR6504   MIR6772   MIR6773   MIR6774   MIR6775   MIR6863   MIR7854   MIR8058   MLKL   MLYCD   MMP15   MMP2   MMP2-AS1   MON1B   MPHOSPH6   MT1A   MT1B   MT1E   MT1F   MT1G   MT1H   MT1M   MT1X   MT2A   MT3   MT4   MTHFSD   MTSS2   MVD   NAE1   NDRG4   NECAB2   NFAT5   NFATC3   NIP7   NLRC5   NOB1   NOL3   NPAP1L   NPIPB15   NQO1   NRN1L   NUDT21   NUDT7   NUP93   NUTF2   OGFOD1   OSGIN1   PABPN1L   PARD6A   PDF   PDP2   PDPR   PHLPP2   PIEZO1   PKD1L2   PKD1L3   PLA2G15   PLCG2   PLEKHG4   PLLP   PMFBP1   POLR2C   PRDM7   PRMT7   PRSS54   PSKH1   PSMB10   PSMD7   PSME3IP1   RANBP10   RBL2   RFWD3   RIPOR1   RNF166   RPGRIP1L   RPL13   RRAD   RSPRY1   SDR42E1   SETD6   SF3B3   SLC12A3   SLC12A4   SLC22A31   SLC38A7   SLC38A8   SLC6A2   SLC7A5   SLC7A6   SLC7A6OS   SLC9A5   SMPD3   SNAI3   SNAI3-AS1   SNORA119   SNORA46   SNORA50A   SNORA70D   SNORD111   SNORD111B   SNORD13H   SNORD68   SNORD71   SNTB2   SPATA2L   SPATA33   SPG7   SPIRE2   ST3GAL2   SYCE1L   TAF1C   TANGO6   TAT   TAT-AS1   TCF25   TEPP   TERB1   TERF2   TERF2IP   THAP11   TK2   TLE7   TMED6   TMEM170A   TMEM208   TMEM231   TPPP3   TRADD   TRAPPC2L   TRG-GCC2-4   TRG-GCC2-5   TRG-GCC3-1   TRG-GCC5-1   TRK-TTT1-1   TRL-CAG2-1   TRL-CAG2-2   TRM-CAT2-1   TRM-CAT6-1   TSNAXIP1   TUBB3   TXNL4B   USB1   USP10   UTP4   VAC14   VAC14-AS1   VAT1L   VPS4A   VPS9D1   VPS9D1-AS1   WDR59   WFDC1   WWOX   WWOX-AS1   WWP2   ZC3H18   ZC3H18-AS1   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
HGVS Name(s): NC_000016.10:g.(?_52899183)_(90088654_?)dup
NC_000016.9:g.(?_52933095)_(90155062_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381652,899,183 - 90,088,654CLINVAR
GRCh371652,933,095 - 90,155,062CLINVAR
Build 361651,490,596 - 88,682,563CLINVAR
Cytogenetic Map1616q12.2-24.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9491023
Created: 2014-09-09
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.