PSTPIP1 (NM_003978.3) sequence variants

Editor(s): Carol WISE   

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Total current number of sequence variants for PSTPIP1 : 29

*This classification is proposed by I Ceccherini, D Rowczenio, Y Shinar, I Touitou, M van Gijn. 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
exon 1c.5T>Cp.Met2ThrLikely benignVALIDATED
 2013-09-06
intron 2c.137+47G>C-BenignVALIDATED
 2011-12-22
exon 3c.155G>Ap.Arg52GlnUncertain significance (VOUS)VALIDATED
 2012-03-02
exon 3c.203C>Tp.Thr68MetNot classifiedTo be validated
 2017-01-18
exon 6c.364G>Ap.Val122IleLikely benignVALIDATED
 2016-11-23
exon 8c.543G>Ap.(=)Likely benignVALIDATED
 2012-06-13
exon 10c.657A>Cp.Gln219HisNot classifiedTo be validated
 2017-04-03
exon 10c.688G>Ap.Ala230ThrPathogenicVALIDATED
 2003-04-18
exon 10c.736G>Ap.Asp246AsnLikely pathogenicVALIDATED
 2013-07-08
intron 10c.741+27G>T-Likely benignVALIDATED
 2013-09-12
intron 10c.741+33_741+34insGT-Likely benignVALIDATED
 2006-04-24
exon 11c.748G>Cp.Glu250GlnPathogenicVALIDATED
 2003-04-18
exon 11c.748G>Ap.Glu250LysPathogenicVALIDATED
 2007-01-10
exon 11c.769G>Ap.Glu257LysLikely pathogenicVALIDATED
 2013-07-24
exon 11c.770A>Gp.Glu257GlyUncertain significance (VOUS)PROVISIONAL
 2013-09-17
exon 11c.773G>Cp.Gly258AlaUncertain significance (VOUS)PROVISIONAL
 2012-06-12
exon 11c.796G>Ap.Asp266AsnLikely benignVALIDATED
 2006-05-22
exon 11c.831G>Tp.Glu277AspLikely benignPROVISIONAL
 2013-06-24
exon 12c.865G>Cp.Asp289HisUncertain significance (VOUS)VALIDATED
 2016-11-23
exon 12c.915C>Tp.(=)BenignVALIDATED
 2012-06-13
intron 13c.986-33dupA-BenignVALIDATED
 2011-12-22
exon 14c.1030G>Ap.Val344IleUncertain significance (VOUS)VALIDATED
 2008-12-01
intron 14c.1120-44_1120-31del-Likely benignVALIDATED
 2013-09-06
exon 15c.1151A>Gp.Asp384GlyBenignVALIDATED
 2015-12-04
exon 15c.1179G>Ap.(=)Likely benignVALIDATED
 2012-06-13
exon 15c.1207G>Cp.Gly403ArgUncertain significance (VOUS)VALIDATED
 2015-02-17
exon 15c.1208G>Ap.Gly403GluUncertain significance (VOUS)VALIDATED
 2015-12-23
exon 15c.1213C>Tp.Arg405CysUncertain significance (VOUS)VALIDATED
 2014-02-19
3UTc.*156_*158del-BenignVALIDATED
 2012-12-10