View unique variants - Leiden Muscular Dystrophy pages

About this overview [Show]

The variants below are all in the MYH7 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 MYH7 full legend here.

3 entries
entries per page

Exon

DNA change

Var_pub_as

RNA change

Protein change

DB-ID

Variant remarks

Genet_ori

Reference

Template

Technique

Frequency

RE-site


1_40	c.= (Reported 3 times)	-	r.=	p.=	MYH7_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-
16	c.1806G>A	-	r.(?)	p.(Val606Met)	MYH7_00001	de novo, in patient	de novo	Bagnall 2010	DNA	SEQ	-	-
22	c.2446T>G (Reported 2 times)	2447T>G	r.(?)	p.(Trp816Gly)	MYH7_00002	DNA/protein descriptions conflicting	germline (inherited)	Purevjav 2012	DNA	DHPLC, SEQ	-	-

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Legend: [ MYH7 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 DNA change: DNA change Var_pub_as: Var_pub_as RNA change: RNA change Protein change: Protein change MYH7 DB-ID: DB-ID Variant remarks: Variant remarks Genet_ori: origin of variant; unknown, germline (i.e. inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) 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

myosin, heavy chain 7, cardiac muscle, beta (MYH7)