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Variant : CV438451 (NM_004606.4(TAF1):c.203G>A (p.Gly68Asp)) Homo sapiens

Symbol: CV438451
Name: NM_004606.4(TAF1):c.203G>A (p.Gly68Asp)
Condition: not provided [RCV000513288]
Clinical Significance: uncertain significance
Last Evaluated: 02/28/2017
Review Status: criteria provided, single submitter|no assertion criteria provided
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense variant
Evidence: clinical testing
HGVS Name(s): NM_004606.4:c.203G>A
NG_012771.2:g.6258G>A
NC_000023.11:g.71367521G>A
NC_000023.10:g.70587371G>A
NP_004597.2:p.Gly68Asp
NM_138923.3:c.203G>A
NR_104387.2:n.161G>A
NR_104388.1:n.279G>A
NR_104389.1:n.279G>A
NR_104390.1:n.279G>A
NR_104391.1:n.279G>A
NR_104392.1:n.279G>A
NR_104393.1:n.279G>A
NR_104394.1:n.279G>A
NR_104395.1:n.279G>A
NP_001273003.1:p.Gly68Asp
NP_620278.1:p.Gly68Asp
NM_001286074.1:c.203G>A
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,367,521 - 71,367,521CLINVAR
GRCh37X70,587,371 - 70,587,371CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 13446109
Created: 2017-11-07
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.