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Variant : CV101054 (NM_004606.4(TAF1):c.868C>G (p.Leu290Val)) Homo sapiens

Symbol: CV101054
Name: NM_004606.4(TAF1):c.868C>G (p.Leu290Val)
Condition: AllHighlyPenetrant [RCV000081160]|not specified [RCV000081160]
Clinical Significance: benign
Last Evaluated: 05/13/2013
Review Status: classified by single submitter|criteria provided, single submitter
Related Genes: TAF1  
Variant Type: single nucleotide variant (SO:0001583)
Source: CLINVAR
Molecular Consequence: missense|missense variant|non-coding transcript variant
Evidence: clinical testing
HGVS Name(s): NM_004606.4:c.868C>G
NG_012771.2:g.16433C>G
NC_000023.11:g.71377696C>G
NC_000023.10:g.70597546C>G
NM_004606.3:c.868C>G
NP_004597.2:p.Leu290Val
NR_104390.1:n.944C>G
NR_104391.1:n.944C>G
NR_104392.1:n.944C>G
NR_104394.1:n.944C>G
NR_104395.1:n.944C>G
NP_620278.1:p.Leu269Val
NP_001273003.1:p.Leu290Val
NP_004597.2:p.Leu290Val
NM_138923.3:c.805C>G
NM_001286074.1:c.868C>G
NR_104387.2:n.826C>G
NR_104388.1:n.944C>G
NR_104389.1:n.944C>G
NR_104393.1:n.944C>G
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,377,696 - 71,377,696CLINVAR
GRCh37X70,597,546 - 70,597,546CLINVAR
Cytogenetic MapXXq13.1CLINVAR
Trait Synonyms: AllHighlyPenetrant




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 8642070
Created: 2014-05-13
Species: Homo sapiens
Last Modified: 2019-10-01
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.