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Variant : CV563229 (NC_000009.11:g.(?_130911805)_(131302617_?)dup) Homo sapiens

Symbol: CV563229
Name: NC_000009.11:g.(?_130911805)_(131302617_?)dup
Condition: Coenzyme Q10 deficiency, primary, 7 [RCV000708297]
Clinical Significance: uncertain significance
Last Evaluated: 05/09/2018
Review Status: criteria provided, single submitter
Related Genes: C9orf16   CERCAM   CIZ1   COQ4   DNM1   GLE1   GOLGA2   LCN2   MIR199B   MIR219A2   MIR219B   MIR3154   ODF2   SLC27A4   SWI5   TRR-TCT3-1   TRUB2   URM1  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_130911805)_(131302617_?)dup
Human AssemblyChrPosition (strand)Source
GRCh389128,149,526 - 128,540,338CLINVAR
GRCh379130,911,805 - 131,302,617CLINVAR
Cytogenetic Map99q34.11CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13819363
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2020-03-17
Status: ACTIVE


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