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Variant : CV159332 (GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3) Homo sapiens

Symbol: CV159332
Name: GRCh38/hg38 4q28.1-35.1(chr4:125432943-185761887)x3
Condition: See cases [RCV000138578]
Clinical Significance: pathogenic|likely benign
Last Evaluated: 07/05/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADAT   ABCE1   ABHD18   ACSL1   ADAM29   AGA   ANAPC10   ANKRD37   ANP32C   ANXA10   APELA   ARFIP1   ARHGAP10   ASB5   ASIC5   C4orf33   C4orf45   C4orf46   C4orf47   C4orf51   CASP3   CBR4   CCDC110   CDKN2AIP   CENPU   CEP44   CFAP97   CLCN3   CLDN22   CLDN24   CLGN   CPE   CTSO   DCHS2   DCLK2   DCTD   DDX60   DDX60L   EDNRA   ELF2   ELMOD2   ENPP6   ETFDH   FAM160A1   FAM160A1-DT   FAM198B-AS1   FAM218A   FAT4   FBXO8   FBXW7   FBXW7-AS1   FGA   FGB   FGG   FHDC1   FNIP2   FREM3   FSTL5   GAB1   GALNT7   GALNTL6   GALNTL6-AS1   GASK1B   GATB   GLRA3   GLRB   GPM6A   GRIA2   GUCY1A1   GUCY1B1   GYPA   GYPB   GYPE   HAND2   HAND2-AS1   HELT   HHIP   HHIP-AS1   HMGB2   HPF1   HPGD   HSPA4L   IL15   ING2   INPP4B   INTU   IQCM   IRF2   JADE1   KLHL2   LARP1B   LINC00290   LINC00498   LINC00499   LINC00613   LINC00616   LINC01093   LINC01095   LINC01098   LINC01099   LINC01179   LINC01256   LINC01612   LINC02172   LINC02174   LINC02233   LINC02266   LINC02268   LINC02269   LINC02273   LINC02275   LINC02276   LINC02355   LINC02362   LINC02363   LINC02365   LINC02377   LINC02379   LINC02382   LINC02427   LINC02431   LINC02432   LINC02433   LINC02436   LINC02462   LINC02465   LINC02466   LINC02479   LINC02485   LINC02491   LINC02500   LINC02504   LINC02507   LINC02509   LINC02510   LINC02511   LINC02615   LRAT   LRBA   LRP2BP   LSM6   MAB21L2   MAML3   MAP9   MARCHF1   MFAP3L   MFSD8   MGARP   MGAT4D   MGST2   MIR1305   MIR2054   MIR3139   MIR3140   MIR3688-1   MIR3688-2   MIR3945   MIR3945HG   MIR4276   MIR4453   MIR4453HG   MIR4454   MIR4455   MIR4799   MIR548G   MIR548T   MIR578   MIR6082   MIR7849   MMAA   MND1   MSMO1   NAA15   NAF1   NDUFC1   NEIL3   NEK1   NOCT   NPY1R   NPY2R   NPY5R   NR3C2   OTUD4   PABPC4L   PALLD   PCDH10   PCDH18   PDGFC   PDLIM3   PGRMC2   PLK4   PLRG1   POU4F2   PPID   PRIMPOL   PRMT9   PRSS48   RAB33B   RAPGEF2   RBM46   REELD1   RNF150   RNF175   RPS3A   RWDD4   RXFP1   SAP30   SCLT1   SCOC   SCOC-AS1   SCRG1   SETD7   SFRP2   SH3D19   SH3RF1   SLC10A7   SLC25A31   SLC25A4   SLC7A11   SLC7A11-AS1   SMAD1   SMAD1-AS1   SMAD1-AS2   SMARCA5   SMARCA5-AS1   SMIM31   SNHG27   SNORD73A   SNORD73B   SNX25   SORBS2   SPATA4   SPCS3   SPOCK3   STOX2   TBC1D9   TDO2   TEMN3-AS1   TENM3   TENM3-AS1   TIGD4   TKTL2   TLL1   TLR2   TMA16   TMEM131L   TMEM144   TMEM154   TMEM184C   TMEM192   TRAPPC11   TRIM2   TRIM60   TRIM61   TTC29   UCP1   UFSP2   USP38   VEGFC   WDR17   WWC2   WWC2-AS1   WWC2-AS2   ZNF330   ZNF827  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_125432943)_(185761887_?)dup
NC_000004.11:g.(?_126354098)_(186683041_?)dup
NC_000004.10:g.(?_126573548)_(186920035_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh384125,432,943 - 185,761,887CLINVAR
GRCh374126,354,098 - 186,683,041CLINVAR
Build 364126,573,548 - 186,920,035CLINVAR
Cytogenetic Map44q28.1-35.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486118
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2019-08-06
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.