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Variant : CV156352 (GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3) Homo sapiens

Symbol: CV156352
Name: GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3
Condition: See cases [RCV000135863]
Clinical Significance: pathogenic
Last Evaluated: 10/20/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AARS1   ACD   ADAD2   ADAMTS18   ADAT1   AGRP   AP1G1   ARLNC1   ATMIN   ATP2C2   ATP2C2-AS1   ATP6V0D1   ATXN1L   B3GNT9   BCAR1   BCO1   BEAN1   BEAN1-AS1   C16orf46   C16orf70   C16orf86   CA7   CALB2   CARMIL2   CBFB   CDH1   CDH11   CDH13   CDH16   CDH3   CDH5   CDYL2   CENPN   CENPT   CES2   CES3   CES4A   CFDP1   CHST4   CHST5   CHST6   CHTF8   CIAO2B   CKLF   CKLF-CMTM1   CLEC18A   CLEC18B   CLEC18C   CLEC3A   CMC2   CMIP   CMTM1   CMTM2   CMTM3   CMTM4   CMTR2   CNTNAP4   COG4   COG8   COTL1   CPHXL   CTCF   CTRB1   CTRB2   CTRL   CYB5B   DDX19A   DDX19B   DDX28   DERPC   DHODH   DHX38   DNAAF1   DPEP2   DPEP2NB   DPEP3   DUS2   DUXB   DYNC1LI2   DYNLRB2   E2F4   EDC4   ELMO3   ENKD1   ESRP2   EXOC3L1   EXOSC6   FA2H   FBXL8   FCSK   FHOD1   GABARAPL2   GAN   GCSH   GFOD2   GLG1   HAS3   HCCAT5   HP   HPR   HSBP1   HSD11B2   HSD17B2   HSDL1   HSF4   HYDIN   IL34   IST1   KARS1   KCNG4   KCTD19   KIAA0895L   LCAT   LDHD   LINC00920   LINC00922   LINC01227   LINC01229   LINC01568   LINC01572   LINC02125   LINC02126   LINC02131   LINC02136   LRRC29   LRRC36   MAF   MAFTRR   MARVELD3   MBTPS1   MEAK7   MIR140   MIR1538   MIR1972-2   MIR3182   MIR328   MIR4719   MIR4720   MIR6504   MIR6773   MIR7854   MIR8058   MLKL   MLYCD   MON1B   MPHOSPH6   MTSS2   NAE1   NECAB2   NFAT5   NFATC3   NIP7   NOB1   NOL3   NPIPB15   NQO1   NRN1L   NUDT7   NUTF2   OSGIN1   PARD6A   PDF   PDP2   PDPR   PHLPP2   PKD1L2   PKD1L3   PLA2G15   PLCG2   PLEKHG4   PMFBP1   PRMT7   PSKH1   PSMB10   PSMD7   RANBP10   RFWD3   RIPOR1   RRAD   SDR42E1   SF3B3   SLC12A4   SLC38A8   SLC7A6   SLC7A6OS   SLC9A5   SMPD3   SNORA70D   SNORD111   SNORD111B   SNORD13H   SNORD71   SNTB2   ST3GAL2   SYCE1L   TAF1C   TANGO6   TAT   TAT-AS1   TERB1   TERF2   TERF2IP   THAP11   TK2   TLE7   TMED6   TMEM170A   TMEM208   TMEM231   TPPP3   TRADD   TRG-GCC2-4   TRG-GCC2-5   TRG-GCC3-1   TRG-GCC5-1   TRK-TTT1-1   TRM-CAT2-1   TSNAXIP1   TXNL4B   UTP4   VAC14   VAC14-AS1   VAT1L   VPS4A   WDR59   WFDC1   WWOX   WWOX-AS1   WWP2   ZDHHC1   ZFHX3   ZFP1   ZFP90   ZNF19   ZNF23   ZNF821   ZNRF1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000016.10:g.(?_62925929)_(84585795_?)dup
NC_000016.9:g.(?_62959833)_(84619401_?)dup
NC_000016.8:g.(?_61517334)_(83176902_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh381662,925,929 - 84,585,795CLINVAR
GRCh371662,959,833 - 84,619,401CLINVAR
Build 361661,517,334 - 83,176,902CLINVAR
Cytogenetic Map1616q21-24.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9483429
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.