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Variant : CV162184 (GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3) Homo sapiens

Symbol: CV162184
Name: GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3
Condition: See cases [RCV000140974]
Clinical Significance: likely pathogenic
Last Evaluated: 12/04/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM8   ADGRA1   ADGRA1-AS1   BNIP3   C10orf143   CALY   CFAP46   CLRN3   CYP2E1   DPYSL4   EBF3   ECHS1   FOXI2   FUOM   GLRX3   INPP5A   JAKMIP3   KNDC1   LINC01163   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC02667   LINC02870   LRRC27   MGMT   MIR202   MIR202HG   MIR378C   MIR3944   MIR4297   MKI67   MTG1   NKX6-2   PAOX   PPP2R2D   PRAP1   PTPRE   PWWP2B   SPRN   STK32C   SYCE1   TCERG1L   TCERG1L-AS1   TUBGCP2   UTF1   VENTX   ZNF511  
Variant Type: copy number gain (SO:0001742)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000010.11:g.(?_127664168)_(133622588_?)dup
NC_000010.10:g.(?_129462432)_(135436092_?)dup
NC_000010.9:g.(?_129352422)_(135286082_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810127,664,168 - 133,622,588CLINVAR
GRCh3710129,462,432 - 135,436,092CLINVAR
Build 3610129,352,422 - 135,286,082CLINVAR
Cytogenetic Map1010q26.2-26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 9488502
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-02-20
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.