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Variant : CV74230 (GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3) Homo sapiens

Symbol: CV74230
Name: GRCh38/hg38 8p23.1(chr8:8222139-12383784)x3
Condition: See cases [RCV000053482]
Clinical Significance: pathogenic|uncertain significance
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AC022784.1   AC104964.1   AC105001.1   AF131215.3   AF131216.3   BLK   C8orf49   C8orf74   CLDN23   CTSB   DEFB130A   DEFB130B   DEFB134   DEFB135   DEFB136   ERI1   FAM167A   FAM167A-AS1   FAM66A   FAM66D   FAM85A   FAM85B   FAM86B1   FDFT1   GATA4   LINC00208   MFHAS1   MIR124-1   MIR124-1HG   MIR1322   MIR4286   MIR4660   MIR597   MIR598   MSRA   MTMR9   NEIL2   PINX1   PPP1R3B   PRAG1   PRSS51   PRSS55   RP1L1   SLC35G5   SNORA99   SNORD3I   SOX7   TNKS   USP17L2   USP17L7   XKR6   ZNF705D  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000008.11:g.(?_8222139)_(12383784_?)dup
NC_000008.10:g.(?_8079661)_(12241293_?)dup
NC_000008.9:g.(?_8117071)_(12285664_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3888,222,139 - 12,383,784CLINVAR
GRCh3788,079,661 - 12,241,293CLINVAR
Build 3688,117,071 - 12,285,664CLINVAR
Cytogenetic Map88p23.1CLINVAR




Additional Information

External Database Links
 
RGD Object Information
RGD ID: 8620416
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-06-30
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.