View unique variants - CCHMC Molecular Genetics Laboratory Mutation Database

About this overview [Show]

The variants below are all in the USH1G 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 USH1G full legend here.

3 entries
entries per page

DNA change

Protein

dbSNP ID


c.113G>A	p.W38X	-
c.143T>C	p.L48P	-
c.1373A>T	p.D458V	-

1 - 3

Legend: [ USH1G 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.
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#

For research use. Husami et al. 2006-2010

CCHMC Molecular Genetics Laboratory Mutation Database

Usher syndrome 1G (autosomal recessive) (USH1G)