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Variant : CV157937 (GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3) Homo sapiens

Symbol: CV157937
Name: GRCh38/hg38 4p16.3-12(chr4:36424-47491595)x3
Condition: See cases [RCV000137261]
Clinical Significance: pathogenic
Last Evaluated: 03/21/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ABLIM2   AC016687.3   AC024022.1   AC092535.4   AC096576.3   AC097382.2   AC104078.1   AC116565.1   AC139887.2   ACOX3   ADD1   ADGRA3   ADRA2C   AFAP1   AFAP1-AS1   ANAPC4   APBB2   ARAP2   ATP10D   ATP5ME   ATP8A1   BEND4   BLOC1S4   BOD1L1   BST1   C1QTNF7   C1QTNF7-AS1   C4orf19   C4orf48   C4orf50   CC2D2A   CCDC149   CCDC96   CCKAR   CD38   CFAP99   CHRNA9   CLNK   CLRN2   COMMD8   COX7B2   CPEB2   CPEB2-DT   CPLX1   CPZ   CRMP1   CTBP1   CTBP1-AS   CTBP1-DT   CYTL1   DCAF16   DCAF4L1   DEFB131A   DGKQ   DHX15   DOK7   DRD5   DTHD1   EVC   EVC2   FAM114A1   FAM184B   FAM193A   FAM200B   FAM53A   FAM90A26   FBXL5   FGFBP1   FGFBP2   FGFR3   FGFRL1   GABRA2   GABRA4   GABRB1   GABRG1   GAK   GBA3   GNPDA2   GPR78   GRK4   GRPEL1   GRXCR1   GUF1   HAUS3   HGFAC   HMX1   HS3ST1   HTRA3   HTT   HTT-AS   IDUA   JAKMIP1   KCNIP4   KCNIP4-IT1   KCTD8   KIAA0232   KLB   KLF3   KLF3-AS1   KLHL5   LAP3   LCORL   LDB2   LETM1   LGI2   LIAS   LIMCH1   LINC00504   LINC00682   LINC00955   LINC01085   LINC01096   LINC01097   LINC01182   LINC01258   LINC01259   LINC01396   LINC01587   LINC02171   LINC02261   LINC02265   LINC02270   LINC02278   LINC02353   LINC02360   LINC02364   LINC02383   LINC02447   LINC02472   LINC02473   LINC02475   LINC02481   LINC02482   LINC02484   LINC02493   LINC02495   LINC02497   LINC02501   LINC02505   LINC02506   LINC02513   LINC02517   LINC02616   LOC389199   LRPAP1   LYAR   MAEA   MAN2B2   MED28   MFSD10   MIR12113   MIR12115   MIR1255B1   MIR218-1   MIR3138   MIR378D1   MIR4274   MIR4275   MIR4798   MIR4800   MIR4801   MIR4802   MIR5091   MIR548I2   MIR5591   MIR571   MIR572   MIR573   MIR574   MIR7978   MIR943   MIR95   MRFAP1   MRFAP1L1   MSANTD1   MSX1   MXD4   MYL5   N4BP2   NAT8L   NCAPG   NELFA   NKX1-1   NKX3-2   NOP14   NOP14-AS1   NSD2   NSG1   NSUN7   NWD2   OTOP1   PACRGL   PCDH7   PCGF3   PDE6B   PDE6B-AS1   PDS5A   PGM2   PHOX2B   PHOX2B-AS1   PI4K2B   PIGG   POLN   PPARGC1A   PPP2R2C   PROM1   PSAPL1   PTTG2   QDPR   RAB28   RBM47   RBPJ   RELL1   RFC1   RGS12   RHOH   RNF212   RNF4   RPL9   S100P   SCARNA22   SEL1L3   SEPSECS   SEPSECS-AS1   SH3BP2   SH3TC1   SHISA3   SLBP   SLC26A1   SLC2A9   SLC2A9-AS1   SLC30A9   SLC34A2   SLC49A3   SLIT2   SLIT2-IT1   SMIM14   SMIM20   SNORA75B   SNORD162   SOD3   SORCS2   SPON2   STIM2   STIM2-AS1   STK32B   STX18   STX18-AS1   STX18-IT1   TACC3   TADA2B   TAPT1   TAPT1-AS1   TBC1D1   TBC1D14   TBC1D19   TLR1   TLR10   TLR6   TMEM128   TMEM129   TMEM156   TMEM175   TMEM271   TMEM33   TNIP2   TRMT44   UBE2K   UCHL1   UCHL1-AS1   UGDH   UGDH-AS1   USP17L10   USP17L11   USP17L12   USP17L13   USP17L15   USP17L17   USP17L18   USP17L19   USP17L20   USP17L21   USP17L22   USP17L24   USP17L25   USP17L26   USP17L27   USP17L28   USP17L29   USP17L30   USP17L5   UVSSA   WDR1   WDR19   WFS1   YIPF7   ZBTB49   ZCCHC4   ZFYVE28   ZNF141   ZNF518B   ZNF595   ZNF718   ZNF721   ZNF732  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_36424)_(47491595_?)dup
NC_000004.11:g.(?_36424)_(47493612_?)dup
NC_000004.10:g.(?_26424)_(47188369_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38436,424 - 47,491,595CLINVAR
GRCh37436,424 - 47,493,612CLINVAR
Build 36426,424 - 47,188,369CLINVAR
Cytogenetic Map44p16.3-12CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484819
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-09-08
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.