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Variant : CV411477 (NM_004606.4(TAF1):c.4454A>G (p.His1485Arg)) Homo sapiens

Symbol: CV411477
Name: NM_004606.4(TAF1):c.4454A>G (p.His1485Arg)
Condition: not provided [RCV000482815]
Clinical Significance: likely pathogenic
Last Evaluated: 01/25/2017
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): NM_138923.3:c.4391A>G
NR_104391.1:n.4530A>G
NR_104392.1:n.4530A>G
NR_104393.1:n.4530A>G
NM_004606.4:c.4454A>G
NG_012771.2:g.60055A>G
NC_000023.11:g.71421318A>G
NC_000023.10:g.70641168A>G
NM_004606.3:c.4454A>G
NP_004597.2:p.His1485Arg
NM_001286074.1:c.4454A>G
NR_104387.2:n.4412A>G
NR_104388.1:n.4530A>G
NR_104389.1:n.4530A>G
NR_104394.1:n.4530A>G
NR_104395.1:n.4530A>G
NP_001273003.1:p.His1485Arg
NP_620278.1:p.His1464Arg
NR_104390.1:n.4530A>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,421,318 - 71,421,318CLINVAR
GRCh37X70,641,168 - 70,641,168CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12894438
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.