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Variant : CV486728 (NC_000001.10:g.(?_206516175)_(206567055_?)dup) Homo sapiens

Symbol: CV486728
Name: NC_000001.10:g.(?_206516175)_(206567055_?)dup
Condition: Undetermined early-onset epileptic encephalopathy [RCV000585850]
Clinical Significance: likely pathogenic
Last Evaluated: 01/01/2018
Review Status: criteria provided, single submitter
Related Genes: SRGAP2  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000001.10:g.(?_206516175)_(206567055_?)dup
Human AssemblyChrPosition (strand)Source
GRCh371206,516,175 - 206,567,055CLINVAR
Cytogenetic Map11q32.1CLINVAR

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13517354
Created: 2018-04-10
Species: Homo sapiens
Last Modified: 2019-12-03
Status: ACTIVE


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