View unique variants - Leiden Muscular Dystrophy pages

About this overview [Show]

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

29 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


1	germline (inherited)	c.-178G>T	-	r.(?)	p.(=)	TCAP_00013	-	dbSNP-rs931992	DNA	SEQ	0.10-0.71	-
1_2	germline (inherited)	c.= (Reported 7 times)	-	r.=	p.=	TCAP_00000	no variants 2nd chromosome	-	DNA	SEQ	-	-
1	germline (inherited)	c.37_39del (Reported 8 times)	-	r.(?)	p.(Glu13del)	TCAP_00010	not in 400 control chromosomes	Bos 2006	DNA	DHPLC	-	-
1	germline (inherited)	c.53G>A	1630G>A (Arg18Gln)	r.(?)	p.(Arg18Gln)	TCAP_00028	-	Hershberger 2009	DNA	SEQ	-	-
1	germline (inherited)	c.75G>A (Reported 2 times)	-	r.(?)	p.(Trp25*)	TCAP_00026	not in 308 control chromosomes; FKRP normal	Olive 2008	DNA	SEQ	-	-
1	germline (inherited)	c.110_110+1del (Reported 2 times)	-	r.spl?	p.fs	TCAP_00001	-	Moreira, (OMIM 0002)	RNA, DNA	SEQ	-	-
1i	germline (inherited)	c.110+48C>T (Reported 2 times)	-	r.(?)	p.(=)	TCAP_00024	-	dbSNP-rs2941510	DNA	SEQ	0.00-0.13	-
2	germline (inherited)	c.145G>A	1968G>A (Glu49Lys)	-	p.(Glu49Lys)	TCAP_00029	-	Hershberger 2009	DNA	SEQ	-	-
2	germline (inherited)	c.156C>T	-	r.(?)	p.(=)	TCAP_00005	>600 chromosomes tested	Hayashi 2004	DNA	SEQ	0.004	-
2	germline (inherited)	c.157C>T (Reported 5 times)	-	r.(?)	p.(Gln53*)	TCAP_00002	-	Lima WMS2005 L.P.3.02	DNA	SEQ	-	BfaI+
2	germline (inherited)	c.171C>G	-	r.(?)	p.(Cys57Trp)	TCAP_00018	not in 400 control chromosomes	Perrot (Berlin), EJHFS2005	DNA	SEQ	-	-
2	germline (inherited)	c.191C>T	-	r.(?)	p.(Ser64Leu)	TCAP_00023	-	dbSNP-rs45458802	DNA	SEQ	0.00-0.02	-
2	germline (inherited)	c.208C>G	-	r.(?)	p.(Arg70Trp)	TCAP_00011	not in 400 control chromosomes	Bos 2006	DNA	DHPLC	-	-
2	germline (inherited)	c.225C>A	-	r.(?)	p.(=)	TCAP_00006	>600 chromosomes tested	Hayashi 2004	DNA	SEQ	0.003	-
2	germline (inherited)	c.226C>T	-	r.(?)	p.(Arg76Cys)	TCAP_00030	-	Mazzone 2008	DNA	DHPLC, SEQ	-	-
2	unknown	c.258G>A	-	r.(?)	p.(=)	TCAP_00031	-	from website Emory Genetics Lab	DNA	SEQ	-	-
2	germline (inherited)	c.260G>A	-	r.(?)	p.(Arg87Gln)	TCAP_00003	not in 400 control chromosomes	Knoll 2002, (OMIM 0003)	DNA	SSCA, SEQ	-	-
2	germline (inherited)	c.269C>T	-	r.(?)	p.(Pro90Leu)	TCAP_00012	not in 400 control chromosomes	Bos 2006	DNA	DHPLC	-	-
2	germline (inherited)	c.316C>T (Reported 3 times)	-	r.(?)	p.(Arg106Cys)	TCAP_00016	-	dbSNP-rs45578741	DNA	SEQ	0.00-0.11	-
2	germline (inherited)	c.394G>C	-	r.(?)	p.(Glu132Gln)	TCAP_00009	not in >600 control chromosomes	Hayashi 2004	DNA	SEQ	-	-
2	germline (inherited)	c.410C>T (Reported 2 times)	-	r.(?)	p.(Thr137Ile)	TCAP_00007	not in >600 control chromosomes	Hayashi 2004	DNA	SEQ	-	-
2	germline (inherited)	c.421C>G	2244C>G (Pro141Ala)	-	p.(Pro141Ala)	TCAP_00025	does not segregate, carries likely pathogenic LMNA variant	Hershberger 2009	DNA	SEQ	-	-
2	germline (inherited)	c.447C>T	-	r.(?)	p.(=)	TCAP_00022	-	dbSNP-rs45614332	DNA	SEQ	0.00-0.03	-
2	germline (inherited)	c.453A>C (Reported 3 times)	-	r.(?)	p.(=)	TCAP_00004	>600 chromosomes tested	Hayashi 2004	DNA	SEQ	0.44	-
2	germline (inherited)	c.458G>A (Reported 4 times)	-	r.(?)	p.(Arg153His)	TCAP_00008	not in >600 control chromosomes	Hayashi 2004	DNA	SEQ	-	-
2	germline (inherited)	c.*76G>T	g.826G>T	r.(?)	p.(=)	TCAP_00027	not in 200 control chromosomes	Andersen 2009	DNA	SEQ	-	-
2	germline (inherited)	c.*199G>T	-	r.(?)	p.(=)	TCAP_00015	-	dbSNP-rs45503594	DNA	SEQ	0.00-0.01	-
2	germline (inherited)	c.*377G>C	-	r.(?)	p.(=)	TCAP_00021	-	dbSNP-rs3194794	DNA	SEQ	0.00-0.08	-
2	germline (inherited)	c.*395C>T	-	r.(?)	p.(=)	TCAP_00014	-	dbSNP-rs45540732	DNA	SEQ	0.00-0.01	-

1 - 29

Legend: [ TCAP 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 TCAP 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

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