IL1RN (NM_173842.2) sequence variants
(IRAP/IL1F3/IL1RA/IL-1ra3/ICIL-1RA/MGC10430/LOC3557)

Editor(s): Polly FERGUSON   

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Total current number of sequence variants for IL1RN : 16

*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 1
c.76C>T
p.(Arg26*)
R26*
Not classifiedTo be validated
 2017-05-17
exon 4
c.396delC
p.(Thr133Profs*118)
c.396delC
Not classifiedTo be validated
 2015-03-26
exon 4
c.370G>A
p.(Ala124Thr)
A124T
Not classifiedTo be validated
 2014-12-17
3UT
c.*162C>T
-
c.*162C>T
Not classifiedTo be validated
 2013-10-15
intron 1
c.116+34G>A
-
c.116+34G>A
Not classifiedTo be validated
 2013-08-27
exon 4
c.390T>C
p.(=)
S130S
Not classifiedTo be validated
 2013-08-27
3UT
c.*138C>G
-
c.*138C>G
Not classifiedTo be validated
 2013-08-27
exon 4
c.355C>T
p.(Gln119*)
Q119X
Not classifiedTo be validated
 2013-02-05
exon 3
c.272G>T
p.(Cys91Phe)
C91F
Not classifiedTo be validated
 2012-07-05
intron 2
c.206-516_206-430(2_6)
-
VNTR
Not classifiedTo be validated
 2011-09-01
exon 2
c.171T>C
p.(=)
A60A
Not classifiedTo be validated
 2011-09-01
exon 3
c.213_227delAGATGTGGTACCCAT
p.(Asp72_Ile76del )
p.Asp72_Ile76del
Not classifiedTo be validated
 2011-08-05
5UT
c.(?_-64)_(1696_?)del
p.IL1F9_IL1RNdel
IL1F9_IL1RNdel
Not classifiedTo be validated
 2009-08-06
exon 2
c.156_157del
p.(Asn52Lysfs*25)
N52KfsX25
Not classifiedTo be validated
 2009-08-03
exon 2
c.160C>T
p.(Gln54*)
Q54X
Not classifiedTo be validated
 2009-08-03
exon 3
c.229G>T
p.(Glu77*)
E77X
Not classifiedTo be validated
 2009-08-03