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Variant : CV404853 (NM_004606.4(TAF1):c.4487A>C (p.Asp1496Ala)) Homo sapiens

Symbol: CV404853
Name: NM_004606.4(TAF1):c.4487A>C (p.Asp1496Ala)
Condition: Dystonia 3, torsion, X-linked [RCV000477788]
Clinical Significance: uncertain significance
Last Evaluated: 08/22/2016
Review Status: no assertion criteria provided
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: research
HGVS Name(s): NR_104395.1:n.4563A>C
NM_004606.4:c.4487A>C
NG_012771.2:g.60088A>C
NC_000023.11:g.71421351A>C
NC_000023.10:g.70641201A>C
NM_004606.3:c.4487A>C
NP_004597.2:p.Asp1496Ala
NM_138923.3:c.4424A>C
NR_104394.1:n.4563A>C
NR_104387.2:n.4445A>C
NR_104389.1:n.4563A>C
NR_104390.1:n.4563A>C
NR_104391.1:n.4563A>C
NR_104392.1:n.4563A>C
NR_104393.1:n.4563A>C
NM_001286074.1:c.4487A>C
NR_104388.1:n.4563A>C
NP_620278.1:p.Asp1475Ala
NP_001273003.1:p.Asp1496Ala
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,421,351 - 71,421,351CLINVAR
GRCh37X70,641,201 - 70,641,201CLINVAR
Cytogenetic MapXXq13.1CLINVAR
Trait Synonyms: X-Linked Dystonia-Parkinsonism Syndrome
Age Of Onset: adult
Prevalence: <1 / 1 000 000



Disease Annotations

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12892717
Created: 2017-05-09
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.