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Variant : CV157487 (GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3) Homo sapiens

Symbol: CV157487
Name: GRCh38/hg38 10q26.3(chr10:128872419-133564028)x3
Condition: See cases [RCV000136888]
Clinical Significance: pathogenic
Last Evaluated: 10/19/2010
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ADAM8   ADGRA1   ADGRA1-AS1   BNIP3   C10orf143   CALY   CFAP46   CYP2E1   DPYSL4   EBF3   ECHS1   FUOM   GLRX3   INPP5A   JAKMIP3   KNDC1   LINC01164   LINC01165   LINC01166   LINC01167   LINC01168   LINC02667   LINC02870   LRRC27   MGMT   MIR202   MIR202HG   MIR378C   MIR3944   MIR4297   MTG1   NKX6-2   PAOX   PPP2R2D   PRAP1   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.(?_128872419)_(133564028_?)dup
NC_000010.10:g.(?_130670683)_(135377532_?)dup
NC_000010.9:g.(?_130560673)_(135227522_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh3810128,872,419 - 133,564,028CLINVAR
GRCh3710130,670,683 - 135,377,532CLINVAR
Build 3610130,560,673 - 135,227,522CLINVAR
Cytogenetic Map1010q26.3CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9484449
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-01-14
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.