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Variant : CV24901 (TAF1, SVA RETROTRANSPOSON INSERTION) Homo sapiens

Symbol: CV24901
Name: TAF1, SVA RETROTRANSPOSON INSERTION
Condition: Dystonia 3, torsion, X-linked [RCV000010537]
Clinical Significance: pathogenic
Last Evaluated: 09/25/2013
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TAF1  
Variant Type: insertion (SO:0000667)
Source: CLINVAR
Nucleotide Change: sva retrotransposon insertion
Evidence: literature only
Position
Human AssemblyChrPosition (strand)Source
Cytogenetic MapXXq13CLINVAR
Trait Synonyms: X-Linked Dystonia-Parkinsonism syndrome
Age Of Onset: adulthood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8561212
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-08
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.