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Variant : CV165442 (GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1) Homo sapiens

Symbol: CV165442
Name: GRCh38/hg38 11q24.3-25(chr11:127915964-135068576)x1
Condition: See cases [RCV000143755]
Clinical Significance: pathogenic
Last Evaluated: 03/18/2014
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAD8   ADAMTS15   ADAMTS8   AP001122.1   AP003025.1   APLP2   ARHGAP32   B3GAT1   B3GAT1-DT   BARX2   C11orf45   ETS1   ETS1-AS1   FLI1   GLB1L2   GLB1L3   IGSF9B   JAM3   KCNJ1   KCNJ5   LINC00167   LINC01395   LINC02098   LINC02551   LINC02697   LINC02706   LINC02714   LINC02725   LINC02731   LINC02743   LINC02873   MIR4697   MIR6090   MIR8052   NCAPD3   NFRKB   NTM   NTM-AS1   NTM-IT   OPCML   PRDM10   SENCR   SNORD153   SNX19   SPATA19   ST14   THYN1   TMEM45B   TP53AIP1   VPS26B   ZBTB44   ZBTB44-DT  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_127915964)_(135068576_?)del
Human AssemblyChrPosition (strand)Source
GRCh3811127,915,964 - 135,068,576CLINVAR
GRCh3711127,785,859 - 134,938,470CLINVAR
Build 3611127,291,069 - 134,443,680CLINVAR
Cytogenetic Map1111q24.3-25CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9491353
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-08-04
Status: ACTIVE


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.