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

HGVS sequence name
HGVS protein name
Classification *
Status *
Simple variant
Complex alleles
5UTc.-173A>T-Not classifiedNot validated
 2013-08-27
intron 3c.288+63G>A-Not classifiedNot validated
 2013-09-12
exon 4c.540_541delp.Cys181*Not classifiedNot validated
 2005-07-01
exon 7c.991G>Tp.Ala331SerNot classifiedNot validated
 2008-03-28
exon 7c.1043C>Tp.Pro348LeuNot classifiedNot validated
 2008-03-28
exon 7c.1159A>Gp.Lys387GluNot classifiedNot validated
 2008-03-28
intron 7c.1168+44T>C-Not classifiedNot validated
 2013-09-12
exon 9c.1312_1313delCTp.Ser439Trpfs*15Not classifiedNot validated
 2013-02-16
intron 9c.1456+29A>G-Not classifiedNot validated
 2013-08-27
exon 10c.1510C>Tp.Leu504PheNot classifiedNot validated
 2008-03-28
exon 14c.1801G>Ap.Glu601LysNot classifiedNot validated
 2008-03-28
exon 14c.1876C>Tp.Pro626SerNot classifiedNot validated
 2011-01-04
intron 16c.2174+74A>T-Not classifiedNot validated
 2013-09-12
exon 17c.2201C>Tp.Ser734LeuNot classifiedNot validated
 2005-07-01
exon 17c.2223C>Tp.(=)Not classifiedNot validated
 2009-08-04
intron 17c.2327+1G>Cp.Arg776Serfs*66Not classifiedNot validated
 2007-05-15
intron 19c.2546+51T>A -Not classifiedNot validated
 2013-09-12
3UTc.*3C>T-Not classifiedNot validated
 2011-09-01