IL36RN (NM_173170.1) sequence variants
(IL1F5/FIL1D/IL1HY1/IL1RP3)

Editor(s): Francesca CAPON   

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Total current number of sequence variants for IL36RN : 24

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

Usual name*
HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
V2F
exon 2
c.4G>T
p.(Val2Phe)Not classifiedTo be validated
 2017-08-31
R10X
exon 2
c.28C>T
p.(Arg10*)Not classifiedTo be validated
 2012-05-21
S14X
exon 3
c.41C>A
p.(Ser14X)Not classifiedTo be validated
 2017-08-31
L21P
exon 3
c.62T>C
p.(Leu21Pro)Not classifiedTo be validated
 2015-02-18
L27P
exon 3
c.80T>C
p.(Leu27Pro)Not classifiedTo be validated
 2012-05-21
H32R
exon 3
c.95A>G
p.(His32Arg)Not classifiedTo be validated
 2013-06-14
K35R
exon 3
c.104A>G
p.(Lys35Arg)Not classifiedTo be validated
 2013-03-21
c.115+6T>C
intron 3
c.115+6T>C
p.(Arg10Argfs*1)Not classifiedTo be validated
2012-08-23
I42N
exon 4
c.125T>A
p.(Ile42Asn)Not classifiedTo be validated
 2016-12-21
P46S
exon 4
c.136C>T
p.(Pro46Ser)Likely pathogenicTo be validated
 2019-05-13
N47S
exon 4
c.140A>G
p.(Asn47Ser)Not classifiedTo be validated
 2013-08-19
R48W
exon 4
c.142C>T
p.(Arg48Trp)Not classifiedTo be validated
 2012-05-21
C67F
exon 4
c.200G>T
p.(Cys67Phe)Not classifiedTo be validated
 2019-04-17
P76L
exon 4
c.227C>T
p.(Pro76Leu)Not classifiedTo be validated
2013-06-14
E94X
exon 5
c.280G>T
p.(Glu94*)Not classifiedTo be validated
 2013-06-14
R102W
exon 5
c.304C>T
p.(Arg102Trp)Not classifiedTo be validated
 2013-03-21
R102Q
exon 5
c.305G>A
p.(Arg102Gln)Not classifiedTo be validated
 2013-12-23
E112K
exon 5
c.334G>A
p.(Glu112Lys)Not classifiedTo be validated
 2015-03-18
S113L
exon 5
c.338C>T
p.(Ser113Leu)Not classifiedTo be validated
 2012-05-21
T123R
exon 5
c.368C>G
p.(Thr123Arg)Not classifiedTo be validated
 2012-08-23
T123M
exon 5
c.368C>T
p.(Thr123Met)Not classifiedTo be validated
 2013-06-03
G141Mfs*29
exon 5
c.420_426del
p.(Gly141Metfs*29)Not classifiedTo be validated
 2013-07-01
I146V
exon 5
c.436A>G
p.(Ile146Val)Uncertain significance (VOUS)To be validated
 2019-05-13
*43G>A
3UT
c.*43G>A
p.?Not classifiedTo be validated
 2019-05-13