Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Variant : CV73833 (GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1) Homo sapiens

Symbol: CV73833
Name: GRCh38/hg38 Xp22.2-22.13(chrX:17167171-18804175)x1
Condition: Febrile seizures [RCV000053060]|See cases [RCV000053060]
Clinical Significance: pathogenic
Last Evaluated: 08/12/2011
Review Status: classified by single submitter|criteria provided, single submitter|no assertion criteria provided
Related Genes: BEND2   CDKL5   LINC01456   MIR4768   NHS   NHS-AS1   PPEF1   PPEF1-AS1   RAI2   REPS2   RS1   SCML1   SCML2   TRV-TAC1-2  
Variant Type: copy number loss (SO:0001743)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000023.11:g.(?_17167171)_(18804175_?)del
NC_000023.10:g.(?_17185294)_(18822293_?)del
NC_000023.9:g.(?_17095215)_(18732214_?)del
Position
Human AssemblyChrPosition (strand)Source
GRCh38X17,167,171 - 18,804,175CLINVAR
GRCh37X17,185,294 - 18,822,293CLINVAR
Build 36X17,095,215 - 18,732,214CLINVAR
Cytogenetic MapXXp22.2-22.13CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8620008
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-09-10
Status: ACTIVE



NHLBI Logo

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