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Variant : CV360676 (NM_004606.4(TAF1):c.2954C>T (p.Ser985Phe)) Homo sapiens

Symbol: CV360676
Name: NM_004606.4(TAF1):c.2954C>T (p.Ser985Phe)
Condition: not provided [RCV000413668]
Clinical Significance: likely pathogenic
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): NM_004606.4:c.2954C>T
NG_012771.2:g.31418C>T
NC_000023.11:g.71392681C>T
NC_000023.10:g.70612531C>T
NM_004606.3:c.2954C>T
NP_004597.2:p.Ser985Phe
NM_138923.3:c.2891C>T
NM_001286074.1:c.2954C>T
NR_104387.2:n.2912C>T
NR_104388.1:n.3030C>T
NR_104389.1:n.3030C>T
NR_104390.1:n.3030C>T
NR_104391.1:n.3030C>T
NR_104392.1:n.3030C>T
NR_104393.1:n.3030C>T
NR_104394.1:n.3030C>T
NR_104395.1:n.3030C>T
NP_620278.1:p.Ser964Phe
NP_001273003.1:p.Ser985Phe
Position
Human AssemblyChrPosition (strand)Source
GRCh38X71,392,681 - 71,392,681CLINVAR
GRCh37X70,612,531 - 70,612,531CLINVAR
Cytogenetic MapXXq13.1CLINVAR




Additional Information

External Database Links
 
CRRD Object Information
CRRD ID: 12742437
Created: 2017-02-07
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.