PSTPIP1 (NM_003978.3) sequence variants

Editor(s): Carol WISE   

How to submit a novel simple allele ?   How to submit a novel complex allele ?

Total current number of sequence variants for PSTPIP1 : 27

*This classification is proposed by the INSAID study group. "A new workflow for classification of genetic variants pathogenicity applied to hereditary recurrent fevers by the International Study Group for Systemic AutoInflammatory Diseases (INSAID)" by Marielle E. Van Gijn, Isabella Ceccherini, Yael Shinar Ellen C. Carbo, Mariska Slofstra, Juan I. Arostegui, Guillaume Sarrabay, Dorota Rowczenio, Ebun Omoyinmi, Banu Peynircioglu, Hal M. Hoffman, Florian Milhavet, Morris A. Swertz, Isabelle Touitou. JMG In press

HGVS sequence name
HGVS protein name
Simple variant
Complex alleles
exon 1c.5T>Cp.Met2Thr
intron 2c.137+47G>C-
exon 3c.155G>Ap.Arg52Gln
exon 8c.543G>Ap.(=)
exon 6c.364G>Ap.Val122Ile
exon 10c.688G>Ap.Ala230Thr
exon 10c.736G>Ap.Asp246Asn
intron 10c.741+27 G>T-
intron 10c.741+33_741+34insGT-
exon 11c.748G>Cp.Glu250Gln
exon 11c.748G>Ap.Glu250Lys
exon 11c.769G>Ap.Glu257Lys
exon 11c.770A>Gp.Glu257Gly
exon 11c.773G>Cp.Gly258Ala
exon 11c.796G>Ap.Asp266Asn
exon 11c.831G>Tp.Glu277Asp
exon 12c.865G>Cp.Asp289His
exon 12c.915C>Tp.(=)
intron 13c.986-33dupA-
exon 14c.1030G>Ap.Val344Ile
intron 14c.1120-44_1120-31-
exon 15c.1151A>Gp.Asp384Gly
exon 15c.1179G>Ap.(=)
exon 15c.1207G>Cp.Gly403Arg
exon 15c.1208G>Ap.Gly403Glu
exon 15c.1213C>Tp.Arg405Cys