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Variant : CV164977 (GRCh38/hg38 11q25(chr11:133169303-135068576)x1) Homo sapiens

Symbol: CV164977
Name: GRCh38/hg38 11q25(chr11:133169303-135068576)x1
Condition: See cases [RCV000143290]
Clinical Significance: likely pathogenic
Last Evaluated: 03/19/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: ACAD8   B3GAT1   B3GAT1-DT   GLB1L2   GLB1L3   IGSF9B   JAM3   LINC02697   LINC02706   LINC02714   LINC02731   LINC02743   MIR4697   NCAPD3   OPCML   SNORD153   SPATA19   THYN1   VPS26B  
Variant Type: copy number loss (SO:0001743)
Evidence: clinical testing
HGVS Name(s): NC_000011.10:g.(?_133169303)_(135068576_?)del
Human AssemblyChrPosition (strand)Source
GRCh3811133,169,303 - 135,068,576CLINVAR
GRCh3711133,039,198 - 134,938,470CLINVAR
Build 3611132,544,408 - 134,443,680CLINVAR
Cytogenetic Map1111q25CLINVAR

References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 9490888
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.