View unique variants - CCHMC Molecular Genetics Laboratory Mutation Database

About this overview [Show]

The variants below are all in the PSIP1 database. In this view only variant fields are shown. Variants are listed only once, a number is present in the DNA change field when a variant has been reported more than once (in such cases fields other than the DNA change just belong to one entry and may differ for other entries).
Selecting and clicking a specific line will open a detailed view showing all variant entries, including patient and pathogenicity information.
At the bottom of this page a legend is provided with a short explanation of what each field contains.
For a more detailed description of each field, please see the PSIP1 full legend here.

1 entry
entries per page

Technique

Template

DNA change

Protein

dbSNP ID


SEQ	DNA	c.1312C>G	p.Gln438Glu	-

1

Legend: [ PSIP1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Technique: Technique used to detect the variation. Template: Variant detected in DNA, RNA and/or Protein. DNA change: Variation at DNA-level to coding DNA Reference Sequence. ex: c.7C>T, c.-15T>A, c.77+1G>A, 78-1G>A, c.*2T>A Protein: Variation at protein level. dbSNP ID: rs#

CCHMC Molecular Genetics Laboratory Mutation Database

PC4 and SFRS1 interacting protein 1 (PSIP1)