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Variant : CV512746 (NM_004606.4(TAF1):c.1390A>G (p.Arg464Gly)) Homo sapiens

Symbol: CV512746
Name: NM_004606.4(TAF1):c.1390A>G (p.Arg464Gly)
Condition: Inborn genetic diseases [RCV000622265]
Clinical Significance: uncertain significance
Last Evaluated: 02/22/2016
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_104391.1:n.1466A>G
NR_104392.1:n.1466A>G
NP_001273003.1:p.Arg464Gly
NG_012771.2:g.17738A>G
NM_004606.3:c.1390A>G
NP_004597.2:p.Arg464Gly
NM_004606.4:c.1390A>G
NC_000023.11:g.71379001A>G
NC_000023.10:g.70598851A>G
NM_138923.3:c.1327A>G
NM_001286074.1:c.1390A>G
NR_104387.2:n.1348A>G
NR_104388.1:n.1466A>G
NR_104389.1:n.1466A>G
NR_104390.1:n.1466A>G
NR_104393.1:n.1466A>G
NR_104394.1:n.1466A>G
NR_104395.1:n.1466A>G
NP_620278.1:p.Arg443Gly
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,379,001 - 71,379,001CLINVAR
GRCh37X70,598,851 - 70,598,851CLINVAR
Cytogenetic MapXXq13.1CLINVAR



Disease Annotations
References - uncurated

Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13530133
Created: 2018-05-08
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.