TNFRSF11A (NM_003839.3) sequence variants
(CD265, FEO, RANK)

Editor(s): Isabelle JERU   

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Total current number of sequence variants for TNFRSF11A : 17

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

* If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 9
c.1519G>A
p.(Ala507Thr)
A507T
Likely benignTo be validated
 2019-07-16
exon 9
c.1397G>A
p.(Arg466His)
R466H
Likely benignTo be validated
 2019-07-16
exon 4
c.421C>T
p.(His141Tyr)
H141Y
BenignTo be validated
 2019-07-16
exon 9
c.784G>T
p.(Glu262*)
E262*
Likely pathogenicTo be validated
 2019-07-11
exon 9
c.1140G>A
p.(Val380=)
V380V
Not classifiedTo be validated
 2019-05-13
exon 9
c.1348C>T
p.(Arg450Trp)
R450W
Not classifiedTo be validated
 2019-05-13
exon 10
c.1618A>G
p.(Met540Val)
M540V
Not classifiedTo be validated
 2019-05-13
exon 10
c.1626C>A
p.(Phe542Leu)
F542L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 10
c.1703G>A
p.(Arg568His)
R568H
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 10
c.1829A>G
p.(Glu610Gly)
E610G
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 7
c.718A>G
p.(Lys240Glu)
K240E
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 1
c.74A>T
p.(Gln25Leu)
Q25L
Uncertain significance (VOUS)To be validated
 2019-05-13
exon 9
c.947G>A
p.(Gly316Asp)
G316D
Uncertain significance (VOUS)To be validated
 2019-05-13
intron 6
c.616+3A>G
p.(Asn174Lysfs*31)
delExon6
Not classifiedTo be validated
 2018-03-26
exon 9
c.1279G>A
p.(Asp427Asn)
D427N
Not classifiedTo be validated
 2015-12-04
exon 9
c.1245del
p.(Met416Cysfs*110)
M416Cfs*110
Not classifiedTo be validated
 2014-07-24
exon 1
c.14C>T
p.(Ala5Val)
A5V
Not classifiedTo be validated
 2014-07-24