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Variant : CV553861 (GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3) Homo sapiens

Symbol: CV553861
Name: GRCh37/hg19 2q33.3-35(chr2:205169148-219149293)x3
Condition: not provided [RCV000682166]
Clinical Significance: pathogenic
Last Evaluated: 09/11/2017
Review Status: no assertion criteria provided
Related Genes: AAMP   ABCA12   ACADL   ADAM23   ARPC2   ATIC   BARD1   C2orf80   CCNYL1   CPO   CPS1   CREB1   CRYGA   CRYGB   CRYGC   CRYGD   CXCR1   CXCR2   DIRC3   DYTN   EEF1B2   ERBB4   FASTKD2   FN1   FZD5   GPBAR1   GPR1   IDH1   IGFBP2   IGFBP5   IKZF2   INO80D   KANSL1L   KLF7   LANCL1   MAP2   MARCHF4   MDH1B   METTL21A   MREG   MYL1   NDUFS1   NRP2   PARD3B   PECR   PIKFYVE   PLEKHM3   PNKD   PTH2R   RPE   RPL37A   RUFY4   SMARCAL1   SPAG16   TMBIM1   TMEM169   TNP1   TNS1   UNC80   VWC2L   XRCC5   ZDBF2  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
Position
Human AssemblyChrPosition (strand)Source
GRCh372205,169,148 - 219,149,293CLINVAR
Cytogenetic Map22q33.3-35CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 13794943
Created: 2018-10-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.