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Variant : CV651822 (NC_000009.12:g.(?_127612384)_(128566997_?)del) Homo sapiens

Symbol: CV651822
Name: NC_000009.12:g.(?_127612384)_(128566997_?)del
Condition: Early infantile epileptic encephalopathy [RCV000819894]
Clinical Significance: pathogenic
Last Evaluated: 08/01/2018
Review Status: criteria provided, single submitter
Related Genes: AK1   AL162586.1   C9orf16   CDK9   CERCAM   CFAP157   CIZ1   COQ4   DNM1   DPM2   ENG   FAM102A   FPGS   GLE1   GOLGA2   LCN2   MIR199B   MIR219A2   MIR219B   MIR2861   MIR3154   MIR3911   MIR3960   MIR4672   NAIF1   ODF2   PIP5KL1   PTGES2   PTGES2-AS1   PTRH1   SH2D3C   SLC25A25   SLC25A25-AS1   SLC27A4   SPTAN1   ST6GALNAC4   ST6GALNAC6   STXBP1   SWI5   TOR2A   TRR-TCT3-1   TRUB2   TTC16   URM1  
Variant Type: deletion (SO:0000159)
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_130374663)_(131329276_?)del
Human AssemblyChrPosition (strand)Source
GRCh389127,612,384 - 128,566,997CLINVAR
GRCh379130,374,663 - 131,329,276CLINVAR
Cytogenetic Map99q34.11CLINVAR
Trait Synonyms: Ohtahara syndrome

Disease Annotations
References - uncurated

Additional Information

External Database Links
RGD Object Information
RGD ID: 14701855
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-07-28
Status: ACTIVE


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