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Variant : CV247825 (GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4) Homo sapiens

Symbol: CV247825
Name: GRCh37/hg19 3q24-29(chr3:142995020-192997215)x4
Condition: See cases [RCV000240256]
Clinical Significance: pathogenic
Last Evaluated: 01/20/2016
Review Status: criteria provided, single submitter
Related Genes: AADAC   AADACL2   ABCC5   ABCF3   ACTL6A   ACTRT3   ADIPOQ   AGTR1   AHSG   ALG3   ANKUB1   AP2M1   ARHGEF26   ARL14   ATP11B   ATP13A5   B3GALNT1   B3GNT5   BCHE   BCL6   C3orf33   C3orf70   C3orf80   CAMK2N2   CCDC39   CCDC50   CCNL1   CHRD   CLCN2   CLDN1   CLDN11   CLDN16   CLRN1   COMMD2   CP   CPA3   CPB1   CRYGS   DCUN1D1   DGKG   DHX36   DIPK2A   DNAJB11   DNAJC19   DVL3   ECE2   ECT2   EHHADH   EIF2A   EIF2B5   EIF4A2   EIF4G1   EIF5A2   EPHB3   ERICH6   ETV5   FAM131A   FETUB   FGF12   FNDC3B   FXR1   GFM1   GHSR   GMNC   GMPS   GNB4   GOLIM4   GPR149   GPR160   GPR171   GPR87   GYG1   HLTF   HPS3   HRG   HTR3C   HTR3D   HTR3E   IFT80   IGF2BP2   IGSF10   IL12A   IL1RAP   IQCJ   IQCJ-SCHIP1   KCNAB1   KCNMB2   KCNMB3   KLHL24   KLHL6   KNG1   KPNA4   LAMP3   LEKR1   LINC02877   LIPH   LPP   LRRC31   LRRC34   LRRIQ4   LXN   MAGEF1   MAP3K13   MAP6D1   MASP1   MB21D2   MBNL1   MCCC1   MCF2L2   MECOM   MED12L   MFN1   MFSD1   MINDY4B   MIR1224   MIR28   MLF1   MME   MRPL47   MYNN   NAALADL2   NCEH1   NDUFB5   NLGN1   NMD3   OSTN   OTOL1   P2RY1   P2RY12   P2RY13   P2RY14   P3H2   PARL   PDCD10   PEX5L   PFN2   PHC3   PIK3CA   PLAAT1   PLCH1   PLD1   PLOD2   PLSCR1   PLSCR2   PLSCR4   PLSCR5   POLR2H   PPM1L   PRKCI   PSMD2   PTX3   PYDC2   RAP2B   RARRES1   RFC4   RNF13   RPL22L1   RPL39L   RSRC1   RTP1   RTP2   RTP4   SAMD7   SCHIP1   SEC62   SELENOT   SENP2   SERP1   SERPINI1   SERPINI2   SHOX2   SI   SIAH2   SKIL   SLC2A2   SLC33A1   SLC66A1L   SLC7A14   SLC9A9   SLITRK3   SMC4   SNORA63   SNORA81   SOX2   SOX2-OT   SPATA16   SPTSSB   SSR3   SST   ST6GAL1   SUCNR1   TBCCD1   TBL1XR1   TERC   THPO   TIPARP   TM4SF1   TM4SF18   TM4SF4   TMEM183B   TMEM207   TMEM212   TMEM41A   TNFSF10   TNIK   TP63   TPRG1   TRA2B   TRIM59   TSC22D2   TTC14   USP13   UTS2B   VEPH1   VPS8   VWA5B2   WDR49   WWTR1   YEATS2   ZBBX   ZIC1   ZIC4   ZMAT3   ZNF639  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373142,995,020 - 192,997,215CLINVAR
Cytogenetic Map33q24-29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 11541686
Created: 2016-10-11
Species: Homo sapiens
Last Modified: 2020-01-21
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.