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Variant : CV439177 (NM_004606.4(TAF1):c.890_892AGG[3] (p.Glu298dup)) Homo sapiens

Symbol: CV439177
Name: NM_004606.4(TAF1):c.890_892AGG[3] (p.Glu298dup)
Condition: not provided [RCV000515024]
Clinical Significance: likely benign
Last Evaluated: 02/17/2017
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: microsatellite (SO:0001821)
Source: CLINVAR
Molecular Consequence: inframe_insertion
Evidence: clinical testing
HGVS Name(s): NM_138923.3:c.827_829AGG[3]
NM_001286074.1:c.890_892AGG[3]
NM_004606.4:c.890_892AGG[3]
NG_012771.2:g.16455_16457AGG[3]
NC_000023.11:g.71377718_71377720AGG[3]
NC_000023.10:g.70597568_70597570AGG[3]
NR_104387.2:n.848_850AGG[3]
NR_104388.1:n.966_968AGG[3]
NR_104389.1:n.966_968AGG[3]
NR_104390.1:n.966_968AGG[3]
NR_104391.1:n.966_968AGG[3]
NR_104392.1:n.966_968AGG[3]
NR_104393.1:n.966_968AGG[3]
NR_104394.1:n.966_968AGG[3]
NR_104395.1:n.966_968AGG[3]
NP_620278.1:p.Glu277dup
NP_001273003.1:p.Glu298dup
NP_004597.2:p.Glu298dup
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,377,717 - 71,377,718CLINVAR
GRCh37X70,597,567 - 70,597,568 (+)CLINVAR
Cytogenetic MapXXq13.1CLINVAR



References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13462894
Created: 2017-12-12
Species: Homo sapiens
Last Modified: 2019-10-15
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.