LPIN2 (NM_014646.2) sequence variants

Editor(s): Hatem EL-SHANTI   

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Total current number of sequence variants for LPIN2 : 18

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