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Variant : CV164313 (GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1) Homo sapiens

Symbol: CV164313
Name: GRCh38/hg38 11q24.3-25(chr11:130706504-135075271)x1
Condition: See cases [RCV000142626]
Clinical Significance: pathogenic
Last Evaluated: 02/11/2011
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAD8   AP003025.1   B3GAT1   B3GAT1-DT   GLB1L2   GLB1L3   IGSF9B   JAM3   LINC02551   LINC02684   LINC02697   LINC02706   LINC02714   LINC02731   LINC02743   LINC02873   MIR4697   NCAPD3   NTM   NTM-AS1   NTM-IT   OPCML   SNORD153   SNX19   SPATA19   THYN1   VPS26B  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_130706504)_(135075271_?)del
NC_000011.9:g.(?_130576399)_(134945165_?)del
NC_000011.8:g.(?_130081609)_(134450377_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811130,706,504 - 135,075,271CLINVAR
GRCh3711130,576,399 - 134,945,165CLINVAR
Build 3611130,081,609 - 134,450,377CLINVAR
Cytogenetic Map1111q24.3-25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9490224
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
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.