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Variant : CV33863 (NR_104387.1(TAF1):n.5894C>T) Homo sapiens

Symbol: CV33863
Name: NR_104387.1(TAF1):n.5894C>T
Condition: Dystonia 3, torsion, X-linked [RCV000020067]
Clinical Significance: pathogenic
Last Evaluated: 10/18/2012
Review Status: classified by single submitter|no assertion criteria provided
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001619)
Source: CLINVAR
Molecular Consequence: non-coding transcript variant
Evidence: curation|literature only
HGVS Name(s): NG_012771.2:g.168522C>T
NG_015875.1:g.1724C>T
NC_000023.11:g.71529785C>T
NC_000023.10:g.70749635C>T
AJ549245.1:c.94C>T
CAD70488.1:p.Arg32Cys
NR_104396.2:n.805C>T
NR_104387.2:n.5776C>T
NR_104394.1:n.5771C>T
NR_104389.1:n.5792C>T
NR_104390.1:n.5798C>T
NR_104392.1:n.5814C>T
NR_104391.1:n.5820C>T
NR_104395.1:n.5823C>T
NR_104388.1:n.5885C>T
NR_104393.1:n.5900C>T
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,529,785 - 71,529,785CLINVAR
GRCh37X70,749,635 - 70,749,635CLINVAR
Cytogenetic MapXXq13.1CLINVAR
Trait Synonyms: X-Linked Dystonia-Parkinsonism syndrome
Age Of Onset: adulthood
Prevalence: <1 / 1 000 000



Disease Annotations
References - curated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8600983
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.