Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV72591 (GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3) Homo sapiens

Symbol: CV72591
Name: GRCh38/hg38 3q27.2-29(chr3:185920880-198110319)x3
Condition: See cases [RCV000051738]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC007920.1   AC007920.2   AC072022.1   ACAP2   ADIPOQ   ADIPOQ-AS1   AHSG   APOD   ATP13A3   ATP13A4   ATP13A4-AS1   ATP13A5   ATP13A5-AS1   BCL6   BDH1   CCDC50   CEP19   CLDN1   CLDN16   CPN2   CRYGS   DGKG   DLG1   DLG1-AS1   DNAJB11   EIF4A2   ETV5   FAM43A   FBXO45   FETUB   FGF12   FGF12-AS1   FGF12-AS2   FGF12-AS3   FLJ42393   FYTTD1   GMNC   GP5   HES1   HRG   IL1RAP   IQCG   KNG1   LINC00884   LINC00885   LINC00887   LINC01063   LINC01968   LINC01972   LINC01983   LINC01991   LINC02012   LINC02013   LINC02020   LINC02026   LINC02028   LINC02036   LINC02037   LINC02038   LINC02041   LINC02043   LINC02048   LINC02052   LMLN   LMLN-AS1   LPP   LPP-AS1   LPP-AS2   LRCH3   LRRC15   LSG1   MASP1   MB21D2   MELTF   MELTF-AS1   MIR1248   MIR28   MIR3137   MIR4797   MIR570   MIR570HG   MIR6829   MIR922   MIR944   MUC20   MUC4   NCBP2   NCBP2-AS1   NCBP2AS2   NRROS   OPA1   OPA1-AS1   OSTN   OSTN-AS1   P3H2   P3H2-AS1   PAK2   PCYT1A   PIGX   PIGZ   PLAAT1   PPP1R2   PYDC2   RFC4   RNF168   RPL35A   RPL39L   RTP1   RTP2   RTP4   RUBCN   SENP5   SLC51A   SMCO1   SNAR-I   SNORA4   SNORA63   SNORA63B   SNORA81   SNORD2   SST   ST6GAL1   TBCCD1   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TMEM207   TMEM44   TMEM44-AS1   TNK2   TNK2-AS1   TP63   TPRG1   TPRG1-AS1   TPRG1-AS2   TRA2B   UBXN7   UBXN7-AS1   UTS2B   WDR53   XXYLT1   XXYLT1-AS1   XXYLT1-AS2   ZDHHC19  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000003.12:g.(?_185920880)_(198110319_?)dup
NC_000003.11:g.(?_185638668)_(197837190_?)dup
NC_000003.10:g.(?_187121362)_(199321587_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383185,920,880 - 198,110,319CLINVAR
GRCh373185,638,668 - 197,837,190CLINVAR
Build 363187,121,362 - 199,321,587CLINVAR
Cytogenetic Map33q27.2-29CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618751
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE



NHLBI Logo

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