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Variant : CV379416 (NM_004606.4(TAF1):c.4757G>A (p.Arg1586Gln)) Homo sapiens

Symbol: CV379416
Name: NM_004606.4(TAF1):c.4757G>A (p.Arg1586Gln)
Condition: not specified [RCV000418026]
Clinical Significance: uncertain significance
Last Evaluated: 01/06/2017
Review Status: criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NR_104394.1:n.4790G>A
NR_104388.1:n.4833G>A
NR_104389.1:n.4833G>A
NR_104390.1:n.4833G>A
NR_104391.1:n.4833G>A
NR_104392.1:n.4833G>A
NR_104387.2:n.4715G>A
NM_004606.4:c.4757G>A
NG_012771.2:g.62919G>A
NC_000023.11:g.71424182G>A
NC_000023.10:g.70644032G>A
NM_004606.3:c.4757G>A
NP_004597.2:p.Arg1586Gln
NM_001286074.1:c.4757G>A
NM_138923.3:c.4694G>A
NR_104393.1:n.4833G>A
NR_104395.1:n.4858G>A
NP_001273003.1:p.Arg1586Gln
NP_620278.1:p.Arg1565Gln
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,424,182 - 71,424,182CLINVAR
GRCh37X70,644,032 - 70,644,032CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12833176
Created: 2017-04-11
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.