Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV154266 (GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3) Homo sapiens

Symbol: CV154266
Name: GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3
Condition: See cases [RCV000133997]
Clinical Significance: pathogenic
Last Evaluated: 04/30/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABCC8   AC011092.2   AC044810.2   AC107884.1   AC116535.2   AC127526.2   AC132192.2   ADM   AKIP1   AMPD3   AP006621.3   AP2A2   APBB1   ARFIP2   ARNTL   ART1   ART5   ASCL2   ASCL3   BGLT3   BRSK2   BTBD10   C11orf16   C11orf21   C11orf40   C11orf42   C11orf58   CALCA   CALCB   CARS1   CARS1-AS1   CASC23   CAVIN3   CCKBR   CD151   CD81   CD81-AS1   CDHR5   CDKN1C   CEND1   CHID1   CHRNA10   CNGA4   COPB1   CRACR2B   CSNK2A3   CTR9   CTSD   CYB5R2   CYP2R1   DCHS1   DEAF1   DENND2B   DENND5A   DKK3   DNHD1   DRD4   DUSP8   EIF3F   EIF4G2   EPS8L2   FAM160A2   FAM99A   FAM99B   FAR1   GALNT18   GATD1   GTF2H1   H19   HBB   HBD   HBE1   HBG1   HBG2   HPS5   HPX   HRAS   IFITM10   IGF2   IGF2-AS   IGSF22   ILK   INS   INS-IGF2   INSC   IPO7   IRAG1   IRAG1-AS1   IRF7   KCNC1   KCNJ11   KCNQ1   KCNQ1-AS1   KCNQ1DN   KCNQ1OT1   KRTAP5-1   KRTAP5-2   KRTAP5-3   KRTAP5-4   KRTAP5-5   KRTAP5-6   KRTAP5-AS1   LDHA   LDHAL6A   LDHC   LINC00958   LINC01150   LINC01219   LINC02545   LINC02547   LINC02548   LINC02682   LINC02683   LINC02688   LINC02709   LINC02729   LINC02749   LINC02751   LMNTD2   LMNTD2-AS1   LMO1   LRRC56   LSP1   LYVE1   MICAL2   MICALCL   MIR210   MIR210HG   MIR302E   MIR3159   MIR4298   MIR4299   MIR4485   MIR4686   MIR4687   MIR483   MIR5691   MIR6073   MIR6124   MIR6744   MIR675   MIR7847   MIR8070   MMP26   MOB2   MRGPRE   MRGPRG   MRGPRG-AS1   MRGPRX3   MRGPRX4   MRPL17   MRPL23   MRPL23-AS1   MTRNR2L8   MUC2   MUC5AC   MUC5B   MUC5B-AS1   MUC6   MYOD1   NAP1L4   NCR3LG1   NLRP10   NLRP14   NRIP3   NUCB2   NUP98   OLFML1   OR10A2   OR10A3   OR10A4   OR10A5   OR10A6   OR2AG1   OR2AG2   OR2D2   OR2D3   OR51A2   OR51A4   OR51A7   OR51B2   OR51B4   OR51B5   OR51B6   OR51D1   OR51E1   OR51E2   OR51F1   OR51F2   OR51G1   OR51G2   OR51H1   OR51I1   OR51I2   OR51J1   OR51L1   OR51M1   OR51Q1   OR51S1   OR51T1   OR51V1   OR52A1   OR52A5   OR52B2   OR52B4   OR52B6   OR52D1   OR52E1   OR52E2   OR52E4   OR52E5   OR52E6   OR52E8   OR52H1   OR52I1   OR52I2   OR52J3   OR52K1   OR52K2   OR52L1   OR52M1   OR52N1   OR52N2   OR52N4   OR52N5   OR52R1   OR52W1   OR52Z1   OR56A1   OR56A3   OR56A4   OR56A5   OR56B1   OR56B4   OR5P2   OR5P3   OR6A2   OSBPL5   OTOG   OVCH2   PANO1   PARVA   PDE3B   PGAP2   PHLDA2   PHRF1   PIDD1   PIK3C2A   PLEKHA7   PNPLA2   POLR2L   PPFIBP2   PRR33   PSMA1   PTDSS2   PTH   PTPN5   RASSF10   RASSF10-DT   RASSF7   RBMXL2   RHOG   RIC3   RIC3-DT   RNF141   RNH1   RPL27A   RPLP2   RPS13   RRAS2   RRM1   RRP8   SAA1   SAA2   SAA2-SAA4   SAA4   SAAL1   SBF2   SBF2-AS1   SCT   SCUBE2   SERGEF   SLC22A18   SLC22A18AS   SLC25A22   SMPD1   SNORA23   SNORA3A   SNORA3B   SNORA52   SNORA54   SNORD131   SNORD147   SNORD14A   SNORD14B   SNORD97   SOX6   SPON1   SPTY2D1   SPTY2D1OS   STIM1   STIM1-AS1   STK33   SWAP70   SYT8   SYT9   TAF10   TALDO1   TEAD1   TH   TIMM10B   TMEM41B   TMEM80   TMEM86A   TMEM9B   TMEM9B-AS1   TNNI2   TNNT3   TOLLIP   TOLLIP-AS1   TPH1   TPP1   TRIM21   TRIM22   TRIM3   TRIM34   TRIM5   TRIM6   TRIM66   TRIM68   TRL-CAA5-1   TRPM5   TSG101   TSPAN32   TSPAN4   TSSC4   TUB   TUB-AS1   UBQLN3   UBQLNL   UEVLD   USH1C   USP47   WEE1   ZBED5   ZBED5-AS1   ZNF143   ZNF195   ZNF214   ZNF215  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_446754)_(18904742_?)dup
NC_000011.9:g.(?_446754)_(18926289_?)dup
NC_000011.8:g.(?_436754)_(18882865_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3811446,754 - 18,904,742CLINVAR
GRCh3711446,754 - 18,926,289CLINVAR
Build 3611436,754 - 18,882,865CLINVAR
Cytogenetic Map1111p15.5-15.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9481582
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-07
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.