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Variant : CV651929 (NC_000009.11:g.(?_138594085)_(139440258_?)dup) Homo sapiens

Symbol: CV651929
Name: NC_000009.11:g.(?_138594085)_(139440258_?)dup
Condition: Early infantile epileptic encephalopathy 14 [RCV000817958]
Clinical Significance: uncertain significance
Last Evaluated: 11/15/2018
Review Status: criteria provided, single submitter
Related Genes: C9orf163   CAMSAP1   CARD9   DNLZ   ENTR1   GPSM1   INPP5E   KCNT1   LHX3   NACC2   NOTCH1   PMPCA   QSOX2   SEC16A   SNAPC4   TMEM250   UBAC1  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_138594085)_(139440258_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh379138,594,085 - 139,440,258CLINVAR
Cytogenetic Map99q34.3CLINVAR
Trait Synonyms: CILIARY DYSKINESIA, PRIMARY, 28, WITH SITUS INVERSUS; CILIARY DYSKINESIA, PRIMARY, 28, WITHOUT SITUS INVERSUS; DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 14; Epilepsy, nocturnal frontal lobe, 5



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 14711503
Created: 2019-09-06
Species: Homo sapiens
Last Modified: 2020-11-17
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.