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Variant : CV491570 (NM_004606.4(TAF1):c.5559_5561GGA[2] (p.Glu1857del)) Homo sapiens

Symbol: CV491570
Name: NM_004606.4(TAF1):c.5559_5561GGA[2] (p.Glu1857del)
Condition: not specified [RCV000596900]
Clinical Significance: uncertain significance
Last Evaluated: 02/03/2017
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: microsatellite (SO:0001822)
Source: CLINVAR
Molecular Consequence: inframe_deletion
Evidence: clinical testing
HGVS Name(s): NP_004597.2:p.Glu1857del
NM_004606.4:c.5559_5561GGA[2]
NM_001286074.1:c.5565_5567GGA[2]
NG_012771.2:g.102660_102662GGA[2]
NC_000023.11:g.71463923_71463925GGA[2]
NC_000023.10:g.70683773_70683775GGA[2]
NP_620278.1:p.Glu1836del
NP_001273003.1:p.Glu1859del
NM_138923.3:c.5496_5498GGA[2]
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,463,929 - 71,463,931CLINVAR
GRCh37X70,683,779 - 70,683,781CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13517871
Created: 2018-04-10
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.