LPIN2 (NM_014646.2) sequence variants

Editor(s): Hatem EL-SHANTI   

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ADA2 (DADA2)AP1S3 (_)CARD14 (PRP/PSORS2)CDC42 (CDC42-AID)IL10 (IL10 deficiency)IL10RA (IL10R1 deficiency)IL10RB (IL10R2 deficiency)IL1RN (DIRA)IL36RN (DITRA)LACC1 (sJIA)LPIN2 (Majeed Syndrome)
MEFV (FMF)MVK (MKD/DSAP/RP)NCSTN (PASH)NLRC4 (AIFEC)NLRP1 (NAIAD)NLRP12 (NAPS12)NLRP3 (CAPS)NLRP7 (HYDM1)NOD2 (CD/BS/EOS)OTULIN (AIPDS)
PLCG2 (APLAID/PLAID)POMP (PRAAS2)PSMA3 (PRAAS)PSMB4 (PRAAS3)PSMB8 (PRAAS1)PSMB9 (PRAAS3)PSMG2 (PRAAS4)PSTPIP1 (PAPA)RBCK1 (PBMEI)
SH3BP2 (Cherubism)SLC29A3 (H syndrome)TMEM173 (SAVI)TNFAIP3 (AISBL)TNFRSF11A (TRAPS11)TNFRSF1A (TRAPS)TRNT1 (SIFD)WDR1 (PFIT)

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Total current number of sequence variants for LPIN2 : 18

*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
5UT
c.-173A>T
-
c.-173A>T
Not classifiedTo be validated
 2013-08-27
intron 3
c.288+63G>A
-
c.288+63G>A
Not classifiedTo be validated
 2013-09-12
exon 4
c.540_541del
p.(Cys181*)
T180fs
Not classifiedTo be validated
 2005-07-01
exon 7
c.991G>T
p.(Ala331Ser)
A331S
Not classifiedTo be validated
 2008-03-28
exon 7
c.1043C>T
p.(Pro348Leu)
P348L
Not classifiedTo be validated
 2008-03-28
exon 7
c.1159A>G
p.(Lys387Glu)
K387E
Not classifiedTo be validated
 2008-03-28
intron 7
c.1168+44T>C
-
c.1168+44T>C
Not classifiedTo be validated
 2013-09-12
exon 9
c.1312_1313delCT
p.(Ser439Trpfs*15)
p.Ser439Trpfs*15
Not classifiedTo be validated
 2013-02-16
intron 9
c.1456+29A>G
-
c.1456+29A>G
Not classifiedTo be validated
 2013-08-27
exon 10
c.1510C>T
p.(Leu504Phe)
L504F
Not classifiedTo be validated
 2008-03-28
exon 14
c.1801G>A
p.(Glu601Lys)
E601K
Not classifiedTo be validated
 2008-03-28
exon 14
c.1876C>T
p.(Pro626Ser)
P626S
Not classifiedTo be validated
 2011-01-04
intron 16
c.2174+74A>T
-
c.2174+74A>T
Not classifiedTo be validated
 2013-09-12
exon 17
c.2201C>T
p.(Ser734Leu)
S734L
Not classifiedTo be validated
 2005-07-01
exon 17
c.2223C>T
p.(=)
A741A
Not classifiedTo be validated
 2009-08-04
intron 17
c.2327+1G>C
p.(Arg776Serfs*66)
R776S
Not classifiedTo be validated
 2007-05-15
intron 19
c.2546+51T>A
-
c.2546+51T>A
Not classifiedTo be validated
 2013-09-12
3UT
c.*3C>T
-
c.*3C>T
Not classifiedTo be validated
 2011-09-01