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Variant : CV820032 (NC_000009.11:g.(?_138594085)_(140062314_?)dup) Homo sapiens

Symbol: CV820032
Name: NC_000009.11:g.(?_138594085)_(140062314_?)dup
Condition: Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant [RCV001033771]
Clinical Significance: uncertain significance
Last Evaluated: 02/25/2019
Review Status: criteria provided, single submitter
Related Genes: ABCA2   AGPAT2   AJM1   C8G   C9orf139   C9orf163   CAMSAP1   CARD9   CCDC183   CLIC3   DIPK1B   DNLZ   DPP7   EDF1   EGFL7   ENTPD2   ENTR1   FBXW5   FUT7   GPSM1   GRIN1   INPP5E   KCNT1   LCN10   LCN12   LCN15   LCN6   LCN8   LCNL1   LHX3   MAMDC4   MAN1B1   MIR126   NACC2   NOTCH1   NPDC1   PAXX   PHPT1   PMPCA   PTGDS   QSOX2   RABL6   SAPCD2   SEC16A   SNAPC4   SNHG7   TMEM141   TMEM250   TRAF2   UAP1L1   UBAC1  
Variant Type: duplication (SO:1000035)
Source: CLINVAR
Evidence: clinical testing
HGVS Name(s): NC_000009.11:g.(?_138594085)_(140062314_?)dup
Position
Human AssemblyChrPosition (strand)Source
GRCh379138,594,085 - 140,062,314CLINVAR
Cytogenetic Map99q34.3CLINVAR
Trait Synonyms: Mental retardation, autosomal dominant 8; NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, WITH OR WITHOUT SEIZURES, AUTOSOMAL DOMINANT



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 26896416
Created: 2020-05-12
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.