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Variant : CV72592 (GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3) Homo sapiens

Symbol: CV72592
Name: GRCh38/hg38 3q28-29(chr3:189265371-198110178)x3
Condition: See cases [RCV000051739]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: ACAP2   APOD   ATP13A3   ATP13A4   ATP13A4-AS1   ATP13A5   ATP13A5-AS1   BDH1   CCDC50   CEP19   CLDN1   CLDN16   CPN2   DLG1   DLG1-AS1   FAM43A   FBXO45   FGF12   FGF12-AS1   FGF12-AS2   FGF12-AS3   FYTTD1   GMNC   GP5   HES1   IL1RAP   IQCG   LINC00884   LINC00885   LINC00887   LINC01063   LINC01968   LINC01972   LINC01983   LINC02012   LINC02013   LINC02026   LINC02028   LINC02036   LINC02037   LINC02038   LINC02048   LMLN   LMLN-AS1   LRCH3   LRRC15   LSG1   MB21D2   MELTF   MELTF-AS1   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   RNF168   RPL35A   RUBCN   SENP5   SLC51A   SMCO1   SNAR-I   TCTEX1D2   TFRC   TM4SF19   TM4SF19-AS1   TM4SF19-TCTEX1D2   TMEM207   TMEM44   TMEM44-AS1   TNK2   TNK2-AS1   TP63   TPRG1   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.(?_189265371)_(198110178_?)dup
NC_000003.11:g.(?_188983160)_(197837049_?)dup
NC_000003.10:g.(?_190465854)_(199321446_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh383189,265,371 - 198,110,178CLINVAR
GRCh373188,983,160 - 197,837,049CLINVAR
Build 363190,465,854 - 199,321,446CLINVAR
Cytogenetic Map33q28-29CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8618752
Created: 2014-05-13
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.