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Variant : CV820183 (NC_000009.12:g.(?_97428446)_(98796511_?)dup) Homo sapiens

Symbol: CV820183
Name: NC_000009.12:g.(?_97428446)_(98796511_?)dup
Condition: Epileptic encephalopathy [RCV001033232]
Clinical Significance: uncertain significance
Last Evaluated: 05/21/2019
Review Status: criteria provided, single submitter
Related Genes: ANKS6   ANP32B   CORO2A   FOXE1   GABBR2   HEMGN   NANS   NCBP1   TBC1D2   TDRD7   TMOD1   TRIM14   TRMO   TSTD2   XPA  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.12:g.(?_97428446)_(98796511_?)dup
NC_000009.11:g.(?_100190728)_(101558793_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh379100,190,728 - 101,558,793CLINVAR
Cytogenetic Map99q22.33CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26908726
Created: 2020-05-12
Species: Homo sapiens
Last Modified: 2020-07-21
Status: ACTIVE



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