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Variant : CV71852 (GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1) Homo sapiens

Symbol: CV71852
Name: GRCh38/hg38 11q24.2-24.3(chr11:125891315-129072391)x1
Condition: See cases [RCV000050926]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: AP001122.1   AP001783.1   AP001993.1   ARHGAP32   C11orf45   CDON   DCPS   DDX25   ETS1   ETS1-AS1   FAM118B   FLI1   FOXRED1   GSEC   HYLS1   KCNJ1   KCNJ5   KIRREL3   KIRREL3-AS2   KIRREL3-AS3   LINC02098   LINC02712   LINC02725   MIR3167   MIR6090   PUS3   RPUSD4   SENCR   SRPRA   ST3GAL4   TIRAP   TP53AIP1   VSIG10L2  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_125891315)_(129072391_?)del
Human AssemblyChrPosition (strand)Source
GRCh3811125,891,315 - 129,072,391CLINVAR
GRCh3711125,761,210 - 128,942,286CLINVAR
Build 3611125,266,420 - 128,447,496CLINVAR
Cytogenetic Map1111q24.2-24.3CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 8617987
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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