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Variant : CV384171 (GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3) Homo sapiens

Symbol: CV384171
Name: GRCh37/hg19 3q25.2-29(chr3:152356847-197851986)x3
Condition: See cases [RCV000448608]
Clinical Significance: pathogenic
Last Evaluated:
Review Status: no assertion criteria provided
Related Genes: ABCC5   ABCF3   ACAP2   ACTL6A   ACTRT3   ADIPOQ   AHSG   ALG3   AP2M1   APOD   ARHGEF26   ARL14   ATP11B   ATP13A3   ATP13A4   ATP13A5   B3GALNT1   B3GNT5   BCHE   BCL6   BDH1   C3orf33   C3orf70   C3orf80   CAMK2N2   CCDC39   CCDC50   CCNL1   CEP19   CHRD   CLCN2   CLDN1   CLDN11   CLDN16   CPN2   CRYGS   DCUN1D1   DGKG   DHX36   DLG1   DNAJB11   DNAJC19   DVL3   ECE2   ECT2   EHHADH   EIF2B5   EIF4A2   EIF4G1   EIF5A2   EPHB3   ETV5   FAM131A   FAM43A   FBXO45   FETUB   FGF12   FNDC3B   FXR1   FYTTD1   GFM1   GHSR   GMNC   GMPS   GNB4   GOLIM4   GP5   GPR149   GPR160   HES1   HRG   HTR3C   HTR3D   HTR3E   IFT80   IGF2BP2   IL12A   IL1RAP   IQCG   IQCJ   IQCJ-SCHIP1   KCNAB1   KCNMB2   KCNMB3   KLHL24   KLHL6   KNG1   KPNA4   LAMP3   LEKR1   LINC02877   LIPH   LMLN   LPP   LRCH3   LRRC15   LRRC31   LRRC34   LRRIQ4   LSG1   LXN   MAGEF1   MAP3K13   MAP6D1   MASP1   MB21D2   MCCC1   MCF2L2   MECOM   MELTF   MFN1   MFSD1   MIR1224   MIR28   MIR570   MLF1   MME   MRPL47   MUC20   MUC4   MYNN   NAALADL2   NCBP2   NCEH1   NDUFB5   NLGN1   NMD3   NRROS   OPA1   OSTN   OTOL1   P2RY1   P3H2   PAK2   PARL   PCYT1A   PDCD10   PEX5L   PHC3   PIGX   PIGZ   PIK3CA   PLAAT1   PLCH1   PLD1   POLR2H   PPM1L   PPP1R2   PRKCI   PSMD2   PTX3   PYDC2   RAP2B   RARRES1   RFC4   RNF168   RPL22L1   RPL35A   RPL39L   RSRC1   RTP1   RTP2   RTP4   RUBCN   SAMD7   SCHIP1   SEC62   SENP2   SENP5   SERPINI1   SERPINI2   SHOX2   SI   SKIL   SLC2A2   SLC33A1   SLC51A   SLC66A1L   SLC7A14   SLITRK3   SMC4   SMCO1   SNORA63   SNORA81   SOX2   SOX2-OT   SPATA16   SPTSSB   SSR3   SST   ST6GAL1   TBCCD1   TBL1XR1   TCTEX1D2   TERC   TFRC   THPO   TIPARP   TM4SF19   TMEM207   TMEM212   TMEM41A   TMEM44   TNFSF10   TNIK   TNK2   TNK2-AS1   TP63   TPRG1   TRA2B   TRIM59   TTC14   UBXN7   USP13   UTS2B   VEPH1   VPS8   VWA5B2   WDR49   WDR53   XXYLT1   YEATS2   ZBBX   ZDHHC19   ZMAT3   ZNF639  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh373152,356,847 - 197,851,986CLINVAR
Cytogenetic Map33q25.2-29CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12853314
Created: 2017-04-11
Species: Homo sapiens
Last Modified: 2020-01-07
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.