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Variant : CV554031 (GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3) Homo sapiens

Symbol: CV554031
Name: GRCh37/hg19 3q26.33-29(chr3:182539234-197851986)x3
Condition: not provided [RCV000682336]
Clinical Significance: pathogenic
Last Evaluated: 01/31/2018
Review Status: no assertion criteria provided
Related Genes: ABCC5   ABCF3   ACAP2   ADIPOQ   AHSG   ALG3   AP2M1   APOD   ATP11B   ATP13A3   ATP13A4   ATP13A5   B3GNT5   BCL6   BDH1   C3orf70   CAMK2N2   CCDC50   CEP19   CHRD   CLCN2   CLDN1   CLDN16   CPN2   CRYGS   DCUN1D1   DGKG   DLG1   DNAJB11   DVL3   ECE2   EHHADH   EIF2B5   EIF4A2   EIF4G1   EPHB3   ETV5   FAM131A   FAM43A   FBXO45   FETUB   FGF12   FYTTD1   GMNC   GP5   HES1   HRG   HTR3C   HTR3D   HTR3E   IGF2BP2   IL1RAP   IQCG   KLHL24   KLHL6   KNG1   LAMP3   LIPH   LMLN   LPP   LRCH3   LRRC15   LSG1   MAGEF1   MAP3K13   MAP6D1   MASP1   MB21D2   MCCC1   MCF2L2   MELTF   MIR1224   MIR28   MIR570   MUC20   MUC4   NCBP2   NRROS   OPA1   OSTN   P3H2   PAK2   PARL   PCYT1A   PIGX   PIGZ   PLAAT1   POLR2H   PPP1R2   PSMD2   PYDC2   RFC4   RNF168   RPL35A   RPL39L   RTP1   RTP2   RTP4   RUBCN   SENP2   SENP5   SLC51A   SMCO1   SNORA63   SNORA81   SST   ST6GAL1   TBCCD1   TCTEX1D2   TFRC   THPO   TM4SF19   TMEM207   TMEM41A   TMEM44   TNK2   TNK2-AS1   TP63   TPRG1   TRA2B   UBXN7   UTS2B   VPS8   VWA5B2   WDR53   XXYLT1   YEATS2   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Evidence: clinical testing
Human AssemblyChrPosition (strand)Source
GRCh373182,539,234 - 197,851,986CLINVAR
Cytogenetic Map33q26.33-29CLINVAR

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13795113
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-01-14
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.