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Variant : CV614010 (GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)) Homo sapiens

Symbol: CV614010
Name: GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)
Condition: not provided [RCV000767714]
Clinical Significance: pathogenic
Last Evaluated: 11/01/2018
Review Status: criteria provided, single submitter
Related Genes: AARS2   ABCC10   ABCF1   ABHD16A   ADGRB3   ADGRF1   ADGRF2   ADGRF4   ADGRF5   AGER   AGPAT1   AIF1   ANKRD66   ANKS1A   APOBEC2   APOM   ARMC12   ATAT1   ATF6B   ATP6V1G2   B3GALT4   B3GAT2   BAG2   BAG6   BAK1   BCKDHB   BEND6   BICRAL   BMP5   BNIP5   BRD2   BRPF3   BTBD9   BTNL2   BYSL   C2   C4A   C4B   C6orf132   C6orf136   C6orf141   C6orf15   C6orf223   C6orf226   C6orf47   C6orf89   CAPN11   CCDC167   CCHCR1   CCND3   CD109   CD2AP   CDC5L   CDKN1A   CDSN   CENPQ   CFB   CGAS   CILK1   CLIC1   CLIC5   CLPS   CLPSL1   CLPSL2   CMTR1   CNPY3   COL11A2   COL12A1   COL19A1   COL21A1   COL9A1   COX7A2   CPNE5   CRIP3   CRISP1   CRISP2   CRISP3   CSNK2B   CUL7   CUL9   CUTA   CYP21A2   CYP39A1   DAAM2   DAXX   DDAH2   DDR1   DDX39B   DDX43   DEF6   DEFB110   DEFB112   DEFB113   DEFB114   DHX16   DLK2   DNAH8   DNPH1   DPPA5   DXO   EEF1A1   EFHC1   EGFL8   EHMT2   ELOVL4   ELOVL5   ENPP4   ENPP5   ETV7   EYS   FAM135A   FAM83B   FANCE   FBXO9   FGD2   FILIP1   FKBP5   FKBPL   FLOT1   FOXP4   FRS3   GABBR1   GCLC   GCM1   GFRAL   GLO1   GLP1R   GLYATL3   GNL1   GNMT   GPANK1   GPSM3   GRM4   GSTA1   GSTA2   GSTA3   GSTA4   GSTA5   GTF2H4   GTPBP2   GUCA1A   GUCA1B   HCG17   HCG22   HCG26   HCP5   HCRTR2   HLA-A   HLA-B   HLA-C   HLA-DMA   HLA-DMB   HLA-DOA   HLA-DOB   HLA-DPA1   HLA-DPB1   HLA-DQA1   HLA-DQA2   HLA-DQB1   HLA-DQB2   HLA-DRA   HLA-DRB1   HLA-DRB5   HLA-E   HLA-F   HLA-G   HMGA1   HMGCLL1   HMGN3   HSD17B8   HSP90AB1   HSPA1A   HSPA1B   HSPA1L   HTR1B   IER3   IL17A   IL17F   ILRUN   IMPG1   IP6K3   IRAK1BP1   ITPR3   KCNK16   KCNK17   KCNK5   KCNQ5   KCTD20   KHDC1   KHDC1L   KHDC3L   KHDRBS2   KIAA1586   KIF6   KIFC1   KLC4   KLHDC3   KLHL31   LCA5   LEMD2   LGSN   LHFPL5   LINC00951   LINC01621   LMBRD1   LRFN2   LRRC1   LRRC73   LSM2   LST1   LTA   LTB   LY6G5B   LY6G5C   LY6G6C   LY6G6D   LY6G6F   MAD2L1BP   MAPK13   MAPK14   MAS1L   MCCD1   MCM3   MDC1   MDFI   MDGA1   MEA1   MED20   MEP1A   MICA   MICB   MIR133B   MIR206   MIR219A1   MIR30A   MIR877   MLIP   MLN   MMUT   MOCS1   MOG   MPIG6B   MRPL14   MRPL2   MRPS10   MRPS18A   MRPS18B   MSH5   MTCH1   MTO1   MUC21   MUC22   MUCL3   MYO6   NCR2   NCR3   NELFE   NEU1   NFKBIE   NFKBIL1   NFYA   NOTCH4   NRM   NUDT3   OARD1   OGFRL1   OOEP   OPN5   OR2H2   PACSIN1   PAQR8   PBX2   PEX6   PFDN6   PGC   PGK2   PHF1   PHF3   PHIP   PI16   PIM1   PKHD1   PLA2G7   PNPLA1   POLH   POLR1C   POU5F1   PPARD   PPIL1   PPP1R10   PPP1R11   PPP1R18   PPP2R5D   PPT2   PRICKLE4   PRPH2   PRR3   PRRC2A   PRRT1   PSMB8   PSMB9   PSORS1C1   PSORS1C2   PTCHD4   PTCRA   PTK7   PTP4A1   PXT1   RAB23   RAB44   RCAN2   RGL2   RHAG   RIMS1   RING1   RN7SK   RNF39   RNF5   RNF8   RPL10A   RPL7L1   RPP21   RPS10   RPS18   RRP36   RSPH9   RUNX2   RXRB   SAPCD1   SAYSD1   SCUBE3   SDHAF4   SENP6   SFTA2   SH3BGRL2   SKIV2L   SLC17A5   SLC22A7   SLC25A27   SLC26A8   SLC29A1   SLC35B2   SLC39A7   SLC44A4   SMAP1   SMIM29   SNHG32   SNRPC   SPATS1   SPDEF   SRF   SRPK1   SRSF3   STK19   STK38   SUPT3H   SYNGAP1   TAF11   TAF8   TAP1   TAP2   TAPBP   TBC1D22B   TBCC   TCF19   TCP11   TCTE1   TDRD6   TEAD3   TFAP2B   TFAP2D   TFEB   TINAG   TJAP1   TMEM14A   TMEM151B   TMEM217   TMEM30A   TMEM63B   TNF   TNFRSF21   TNXB   TOMM6   TRAM2   TREM1   TREM2   TREML1   TREML2   TREML4   TRERF1   TRIM10   TRIM15   TRIM26   TRIM31   TRIM39   TRIM39-RPP21   TRIM40   TSBP1   TSPO2   TTBK1   TTK   TUBB   TULP1   UBD   UBR2   UHRF1BP1   UNC5CL   UQCC2   USP49   VARS1   VARS2   VEGFA   VPS52   VWA7   WDR46   XPO5   YIPF3   ZBTB12   ZBTB22   ZBTB9   ZFAND3   ZFP57   ZNF318   ZNF451   ZNF76   ZNRD1  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh37629,455,465 - 81,447,367CLINVAR
Cytogenetic Map66p22.1-q14.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 14399580
Created: 2019-05-07
Species: Homo sapiens
Last Modified: 2019-12-03
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.