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Variant : CV157398 (GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3) Homo sapiens

Symbol: CV157398
Name: GRCh38/hg38 4q31.1-35.2(chr4:138510532-189963195)x3
Condition: See cases [RCV000136810]
Clinical Significance: pathogenic
Last Evaluated: 10/14/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: AADAT   ABCE1   ACSL1   ADAM29   AGA   ANAPC10   ANKRD37   ANP32C   ANXA10   APELA   ARFIP1   ARHGAP10   ASB5   ASIC5   C4orf45   C4orf46   C4orf47   C4orf51   CASP3   CBR4   CCDC110   CDKN2AIP   CENPU   CEP44   CFAP97   CLCN3   CLDN22   CLDN24   CLGN   CPE   CTSO   CYP4V2   DCHS2   DCLK2   DCTD   DDX60   DDX60L   EDNRA   ELF2   ELMOD2   ENPP6   ETFDH   F11   F11-AS1   FAM149A   FAM160A1   FAM160A1-DT   FAM198B-AS1   FAM218A   FAT1   FBXO8   FBXW7   FBXW7-AS1   FGA   FGB   FGG   FHDC1   FNIP2   FREM3   FRG1   FRG1-DT   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   IL15   ING2   INPP4B   IQCM   IRF2   KLHL2   KLKB1   LINC00290   LINC01060   LINC01093   LINC01095   LINC01098   LINC01099   LINC01179   LINC01262   LINC01596   LINC01612   LINC02174   LINC02233   LINC02266   LINC02268   LINC02269   LINC02273   LINC02275   LINC02276   LINC02355   LINC02362   LINC02363   LINC02365   LINC02374   LINC02382   LINC02427   LINC02431   LINC02432   LINC02433   LINC02434   LINC02436   LINC02491   LINC02492   LINC02500   LINC02504   LINC02507   LINC02508   LINC02509   LINC02514   LINC02515   LRAT   LRBA   LRP2BP   LSM6   MAB21L2   MAML3   MAP9   MARCHF1   MFAP3L   MGARP   MGAT4D   MGST2   MIR1305   MIR3139   MIR3140   MIR3688-1   MIR3688-2   MIR3945   MIR3945HG   MIR4276   MIR4453   MIR4453HG   MIR4454   MIR4455   MIR4799   MIR548G   MIR548T   MIR578   MIR6082   MIR7849   MMAA   MND1   MSMO1   MTNR1A   NAA15   NAF1   NDUFC1   NEIL3   NEK1   NOCT   NPY1R   NPY2R   NPY5R   NR3C2   OTUD4   PALLD   PDGFC   PDLIM3   PLRG1   POU4F2   PPID   PRIMPOL   PRMT9   PRSS48   RAB33B   RAPGEF2   RBM46   REELD1   RNF150   RNF175   RPS3A   RWDD4   RXFP1   SAP30   SAP30-DT   SCOC   SCOC-AS1   SCRG1   SETD7   SFRP2   SH3D19   SH3RF1   SLC10A7   SLC25A4   SMAD1   SMAD1-AS1   SMAD1-AS2   SMARCA5   SMARCA5-AS1   SMIM31   SNORD73A   SNORD73B   SNX25   SORBS2   SPATA4   SPCS3   SPOCK3   STOX2   TBC1D9   TDO2   TEMN3-AS1   TENM3   TENM3-AS1   TIGD4   TKTL2   TLL1   TLR2   TLR3   TMA16   TMEM131L   TMEM144   TMEM154   TMEM184C   TMEM192   TRAPPC11   TRIM2   TRIM60   TRIM61   TRIML1   TRIML2   TTC29   UCP1   UFSP2   USP38   VEGFC   WDR17   WWC2   WWC2-AS1   WWC2-AS2   ZFP42   ZNF330   ZNF827  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000004.12:g.(?_138510532)_(189963195_?)dup
NC_000004.11:g.(?_139431686)_(190828225_?)dup
NC_000004.10:g.(?_139651136)_(191121344_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh384138,510,532 - 189,963,195CLINVAR
GRCh374139,431,686 - 190,828,225 (+)CLINVAR
Build 364139,651,136 - 191,121,344CLINVAR
Cytogenetic Map44q31.1-35.2CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9484371
Created: 2014-09-09
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.