View unique variants - Leiden Muscular Dystrophy pages

About this overview [Show]

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

2 entries
entries per page

Exon

Genet_ori

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Reference

Template

Technique

Frequency

RE-site


3	germline (inherited)	c.74G>A	149G>A (Gly50Glu)	r.(?)	p.(Gly25Glu)	ISCU_00002	not in 100 control chromosome	Kollberg 2009, (OMIM 0002)	DNA	SEQ	-	-
5i	germline (inherited)	c.343+382G>C (Reported 39 times)	g.7044G>C	r.343_344ins343+390_343+489	p.Met115Lysfs*16	ISCU_00001	variant strengthens splice site, changing alternative splicing balance, 20-40% reduced mRNA levels	Mochel 2008, (OMIM 0001)	DNA, RNA	RT-PCR, SEQ	-	-

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Legend: [ ISCU 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.
Exon: number of exon/intron containing variant Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change ISCU DB-ID: DB-ID Variant remarks: Variant remarks Reference: publication describing the variant submitted, incl. links to OMIM and dbSNP (when available) Template: Template Technique: Technique Frequency: Frequency RE-site: RE-site

Leiden Muscular Dystrophy pages

Iron-Sulfur cluster scaffold homolog (E. coli) (ISCU)