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Variant : CV574188 (NC_000023.10:g.(?_17393861)_(18671684_?)del) Homo sapiens

Symbol: CV574188
Name: NC_000023.10:g.(?_17393861)_(18671684_?)del
Condition: Early infantile epileptic encephalopathy 2 [RCV000708502]
Clinical Significance: pathogenic
Last Evaluated: 02/22/2018
Review Status: criteria provided, single submitter
Related Genes: BEND2   CDKL5   NHS   RAI2   RS1   SCML1   SCML2  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_17393861)_(18671684_?)del
Human AssemblyChrPosition (strand)Source
GRCh37X17,393,861 - 18,671,684CLINVAR
Cytogenetic MapXXp22.13CLINVAR
Trait Synonyms: Angelman syndrome-like; INFANTILE SPASM SYNDROME, X-LINKED 2

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13819689
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-09-06
Status: ACTIVE


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