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Variant : CV574161 (NC_000023.10:g.(?_152954010)_(153599633_?)dup) Homo sapiens

Symbol: CV574161
Name: NC_000023.10:g.(?_152954010)_(153599633_?)dup
Condition: Severe neonatal-onset encephalopathy with microcephaly [RCV000707841]
Clinical Significance: pathogenic
Last Evaluated: 01/29/2018
Review Status: criteria provided, single submitter
Related Genes: ABCD1   ARHGAP4   AVPR2   BCAP31   FLNA   HCFC1   IDH3G   IRAK1   L1CAM   MECP2   NAA10   OPN1LW   OPN1MW   OPN1MW2   PDZD4   PLXNB3   RENBP   SLC6A8   SRPK3   SSR4   TEX28   TKTL1   TMEM187  
Variant Type: duplication (SO:1000035)
Evidence: clinical testing
HGVS Name(s): NC_000023.10:g.(?_152954010)_(153599633_?)dup
Human AssemblyChrPosition (strand)Source
GRCh37X152,954,010 - 153,599,633CLINVAR
Cytogenetic MapXXq28CLINVAR
Trait Synonyms: Encephalopathy, neonatal severe; Encephalopathy, neonatal severe, due to MECP2 mutations

Disease Annotations
References - uncurated

Additional Information

External Database Links
CRRD Object Information
CRRD ID: 13818653
Created: 2018-11-06
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE


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