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Variant : CV71615 (GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3) Homo sapiens

Symbol: CV71615
Name: GRCh38/hg38 6q24.1-27(chr6:141132990-169339571)x3
Condition: See cases [RCV000050604]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAT2   ADAT2   ADGB   ADGRG6   AFDN   AFDN-DT   AGPAT4   AGPAT4-IT1   AIG1   AIRN   AKAP12   AL009178.2   AL022069.3   AL031121.2   AL109924.1   AL109924.2   AL121956.1   AL353747.4   AL355297.3   AL358852.1   AL359313.1   AL359547.1   AL583835.2   AL606970.3   AL606970.4   ARID1B   ARMT1   C6orf118   C6orf99   CAHM   CCDC170   CCR6   CEP43   CLDN20   CNKSR3   DACT2   DYNLT1   EPM2A   ESR1   EZR   EZR-AS1   FBXO30   FBXO30-DT   FBXO5   FNDC1   FRMD1   FUCA2   GINM1   GJE1   GPR31   GRM1   GTF2H5   HGC6.3   HIVEP2   HYMAI   IGF2R   IPCEF1   IYD   KATNA1   KIF25   KIF25-AS1   LATS1   LINC00473   LINC00602   LINC01277   LINC01558   LINC01615   LINC02487   LINC02529   LINC02538   LINC02544   LINC02840   LNCDAT   LPA   LRP11   LTV1   LUADT1   MAP3K4   MAS1   MIR1202   MIR12131   MIR1273C   MIR1913   MIR3692   MIR3918   MIR3939   MIR4466   MIR7161   MPC1   MRPL18   MTHFD1L   MTRF1L   MYCT1   NMBR   NOX3   NUP43   OPRM1   PACRG   PACRG-AS1   PACRG-AS2   PACRG-AS3   PCMT1   PDE10A   PEX3   PHACTR2   PHACTR2-AS1   PLAGL1   PLEKHG1   PLG   PNLDC1   PPIL4   PPP1R14C   PRKN   PRR18   QKI   RAB32   RAET1E   RAET1E-AS1   RAET1G   RAET1L   RGS17   RMND1   RNASET2   RPS6KA2   RPS6KA2-AS1   RPS6KA2-IT1   RSPH3   SAMD5   SASH1   SCAF8   SDIM1   SERAC1   SF3B5   SFT2D1   SHPRH   SLC22A1   SLC22A2   SLC22A3   SMOC2   SNORA116   SNORA20   SNORA29   SNORA98   SNORD28B   SNX9   SNX9-AS1   SOD2   SOD2-OT1   STX11   STXBP5   STXBP5-AS1   SUMO4   SYNE1   SYNE1-AS1   SYNJ2   SYNJ2-IT1   SYTL3   TAB2   TAB2-AS1   TAGAP   TBXT   TCP1   TFB1M   THBS2   TIAM2   TMEM181   TMEM242   TRL-TAA1-1   TRQ-TTG4-1   TTLL2   TULP4   ULBP1   ULBP2   ULBP3   UNC93A   UST   UST-AS1   UST-AS2   UTRN   VIP   VTA1   WTAP   ZBTB2   ZC2HC1B   ZC3H12D   ZDHHC14  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000006.12:g.(?_141132990)_(169339571_?)dup
NC_000006.11:g.(?_141454127)_(169739666_?)dup
NC_000006.10:g.(?_141495820)_(169481591_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh386141,132,990 - 169,339,571CLINVAR
GRCh376141,454,127 - 169,739,666CLINVAR
Build 366141,495,820 - 169,481,591CLINVAR
Cytogenetic Map66q24.1-27CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8617712
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.