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Variant : CV159983 (GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1) Homo sapiens

Symbol: CV159983
Name: GRCh38/hg38 11q24.2-25(chr11:126199589-135075271)x1
Condition: See cases [RCV000139117]
Clinical Significance: pathogenic
Last Evaluated: 07/09/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAD8   ADAMTS15   ADAMTS8   AP001122.1   AP001783.1   AP001993.1   AP003025.1   APLP2   ARHGAP32   B3GAT1   B3GAT1-DT   BARX2   C11orf45   DCPS   ETS1   ETS1-AS1   FAM118B   FLI1   FOXRED1   GLB1L2   GLB1L3   GSEC   IGSF9B   JAM3   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   LINC00167   LINC01395   LINC02098   LINC02551   LINC02684   LINC02697   LINC02706   LINC02712   LINC02714   LINC02725   LINC02731   LINC02743   LINC02873   MIR3167   MIR4697   MIR6090   MIR8052   NCAPD3   NFRKB   NTM   NTM-AS1   NTM-IT   OPCML   PRDM10   RPUSD4   SENCR   SNORD153   SNX19   SPATA19   SRPRA   ST14   ST3GAL4   THYN1   TIRAP   TMEM45B   TP53AIP1   VPS26B   ZBTB44   ZBTB44-DT  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_126199589)_(135075271_?)del
NC_000011.9:g.(?_126069484)_(134945165_?)del
NC_000011.8:g.(?_125574694)_(134450377_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh3811126,199,589 - 135,075,271CLINVAR
GRCh3711126,069,484 - 134,945,165CLINVAR
Build 3611125,574,694 - 134,450,377CLINVAR
Cytogenetic Map1111q24.2-25CLINVAR



References - uncurated

Additional Information

External Database Links
 
RGD Object Information
RGD ID: 9486649
Created: 2014-09-09
Species: Homo sapiens
Last Modified: 2020-07-28
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.