View unique variants - Leiden Muscular Dystrophy pages

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The variants below are all in the SEPN1 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 SEPN1 full legend here.

116 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	c.-42T>C	-	r.(?)	p.(=)	SEPN1_00102	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
1	c.-30_64del (Reported 3 times)	1-34_60del94	r.(?)	p.?	SEPN1_00074	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.-22_72del	1-25_69del	r.(?)	p.0?	SEPN1_00050	-	germline (inherited)	Maiti 2009	DNA	SEQ	-	-
1	c.-14_-5dup	-14_-5dup10	r.(?)	p.(=)	SEPN1_00037	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.-12C>G (Reported 2 times)	-	r.(?)	p.?	SEPN1_00077	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.-11_81del (Reported 5 times)	-19_73del	r.(?)	p.0?	SEPN1_00001	linked to 1p36	germline (inherited)	Ferreiro 2004	DNA	SSCA, SEQ	-	-
1	c.-10_135del	-	r.(?)	p.0?	SEPN1_00101	deletion of the terminal 10 nucleotides of the 5' UTR and the first 135 nucleotides of exon 1	germline (inherited)	-	DNA	PCR, SEQ	-	-
1_13	c.= (Reported 2 times)	-	r.=	p.=	SEPN1_00000	no variants 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-
1_13	c.? (Reported 19 times)	-	r.?	p.?	SEPN1_00000	unknown variant 2nd chromosome	germline (inherited)	-	DNA	SEQ	-	-
1	c.1A>G (Reported 22 times)	-	r.(?)	p.0?	SEPN1_00002	mRNA level near normal	germline (inherited)	Ferreiro 2002, (OMIM 0003), Allamand 2006	DNA	SSCA, SEQ	-	-
1	c.2dupT (Reported 3 times)	1_2insT	r.2dup	p.0?	SEPN1_00004	mRNA level 0.6-0.7; potential secondary translation initiation	germline (inherited)	Okamoto 2006	DNA, RNA	RT-PCR, SEQ	-	-
1	c.2T>G (Reported 2 times)	(Met1Val)	r.(?)	p.0?	SEPN1_00073	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
1	c.9_33del (Reported 3 times)	9_33del25	r.(?)	p.(Ala4Profs*54)	SEPN1_00060	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
1	c.13_22dup (Reported 21 times)	22dup10	r.(?)	p.(Gln8Profs*78)	SEPN1_00003	-	germline (inherited)	Moghadaszadeh 2001	DNA	SSCA, SEQ	-	-
1	c.23_32dup10 (Reported 2 times)	-	r.(?)	p.(Pro12Thrfs*75)	SEPN1_00038	variant identical to 13_22dup10?	germline (inherited)	Clarke 2006	DNA	SEQ	-	-
1	c.42C>T (Reported 2 times)	-	r.(?)	p.(=)	SEPN1_00036	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.44_72dup (Reported 2 times)	44_72dup29	r.(?)	p.(Arg25Alafs*51)	SEPN1_00059	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.56_83dup	56_83dup28	r.(?)	p.(Arg29Alafs*63)	SEPN1_00095	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.60_79dup (Reported 3 times)	-	r.60_79dup	p.Arg27Leufs*62	SEPN1_00005	mRNA level 0.3; potential secondary translation initiation	germline (inherited)	Okamoto 2006	DNA, RNA	RT-PCR, SEQ	-	-
1	c.103G>C (Reported 2 times)	-	r.(?)	p.(Gly35Arg)	SEPN1_00093	-	germline (inherited)	-	DNA	SEQ	-	-
1	c.125_136dup	-	r.(?)	p.(Ala42_Ala45dup)	SEPN1_00113	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
1	c.163dupG	-	r.(?)	p.(Ala55Glyfs*28)	SEPN1_00100	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
1	c.166C>T (Reported 2 times)	-	r.(?)	p.(Gln56*)	SEPN1_00080	-	germline (inherited)	-	DNA	SEQ	-	-
2	c.249_250dup (Reported 2 times)	249_250dupGG	r.(?)	p.(Asp84Glyfs*17)	SEPN1_00056	-	germline (inherited)	-	DNA	SEQ	-	-
2	c.253A>G	-	r.(?)	p.(Met86Val)	SEPN1_00027	-	germline (inherited)	-	DNA	SEQ	-	-
3_3i	c.402_403+2del (Reported 3 times)	402_403+2delGAgt	r.spl?	p.(del?)	SEPN1_00066	-	germline (inherited)	-	DNA	SEQ	-	-
4	c.409A>G (Reported 7 times)	-	r.(?)	p.(Thr137Ala)	SEPN1_00048	-	germline (inherited)	dbSNP-rs35019869	DNA	SEQ	0-0.03	-
4	c.415G>A	-	r.(?)	p.(Ala139Thr)	SEPN1_00028	-	germline (inherited)	-	DNA	SEQ	-	-
4	c.425G>A (Reported 4 times)	-	r.(?)	p.(Cys142Tyr)	SEPN1_00006	-	germline (inherited)	dbSNP-rs7349185	DNA	SEQ	0.81	-
4	c.436_438dup	436_438dupGAG	r.(?)	p.(Glu146dup)	SEPN1_00103	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
4	c.446dupC	-	r.(?)	p.(Asp150*)	SEPN1_00096	-	germline (inherited)	-	DNA	SEQ	-	-
4	c.465G>A	-	r.(?)	p.(=)	SEPN1_00029	-	germline (inherited)	-	DNA	SEQ	-	-
4	c.481C>T	-	r.(?)	p.(Arg161*)	SEPN1_00055	-	germline (inherited)	-	DNA	SEQ	-	-
4i	c.538-48delC (Reported 2 times)	538-47delC	r.(?)	p.(=)	SEPN1_00068	-	germline (inherited)	-	DNA	SEQ	-	-
4i	c.538-2A>T	-	r.spl	p.?	SEPN1_00112	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
5	c.571_572del (Reported 2 times)	571_572delTG	r.(?)	p.(Trp191Aspfs*28)	SEPN1_00071	-	germline (inherited)	-	DNA	SEQ	-	-
5	c.583G>A (Reported 14 times)	A195T	r.(?)	p.(Ala195Thr)	SEPN1_00007	-	germline (inherited)	Tajsharghi 2005	DNA	SEQ	1/22	-
5	c.713dupA (Reported 22 times)	713-714insA	r.(?)	p.(Asn238Lysfs*62)	SEPN1_00008	-	germline (inherited)	Ferreiro 2002, (OMIM 0006)	DNA	SSCA, DHPLC, SEQ	-	-
5	c.714_715insA (Reported 2 times)	-	r.(?)	p.(Arg239Thrfs*62)	SEPN1_00064	-	germline (inherited)	-	DNA	SEQ	-	-
5_5i	c.746_747+38del	746_747+38del38	r.(?)	p.?	SEPN1_00075	-	germline (inherited)	-	DNA	SEQ	-	-
5i	c.747+39C>T	-	r.(?)	p.(=)	SEPN1_00104	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
5i	c.748-40G>A	-	r.(?)	p.(=)	SEPN1_00105	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
6	c.802C>A	-	r.(?)	p.(Arg268Ser)	SEPN1_00069	-	germline (inherited)	-	DNA	SEQ	-	-
6	c.802C>T (Reported 5 times)	-	r.(?)	p.(Arg268Cys)	SEPN1_00083	-	germline (inherited)	-	DNA	SEQ	-	-
6	c.817G>A (Reported 18 times)	817G>A (G273E); conflicting	r.(?)	p.(Gly273Arg)	SEPN1_00009	-	germline (inherited)	Moghadaszadeh 2001, (OMIM 0001)	DNA	SSCA, SEQ	-	-
6	c.820G>C (Reported 8 times)	-	r.(?)	p.(Ala274Pro)	SEPN1_00081	-	germline (inherited)	-	DNA	SEQ	-	-
6	c.846C>T (Reported 2 times)	-	r.(?)	p.(=)	SEPN1_00049	-	germline (inherited)	dbSNP-rs34177164	DNA	SEQ	0.02	-
6	c.863_864del	-	r.(?)	p.(Val288Aspfs*12)	SEPN1_00053	-	germline (inherited)	Sponholz 2006, Schara 2008	DNA	SEQ	-	-
6	c.869_870del (Reported 2 times)	869_870delTC	r.(?)	p.(Phe290Serfs*10)	SEPN1_00067	-	germline (inherited)	-	DNA	SEQ	-	-
6	c.871C>T	-	r.(?)	p.(Arg291Trp)	SEPN1_00076	-	germline (inherited)	-	DNA	SEQ	-	-
6	c.872G>A (Reported 7 times)	-	r.(?)	p.(Arg291Gln)	SEPN1_00039	-	germline (inherited)	-	DNA	SEQ	-	-
7	c.878A>G (Reported 4 times)	-	r.(?)	p.(His293Arg)	SEPN1_00010	-	germline (inherited)	Moghadaszadeh 2001	DNA	SSCA, SEQ	-	-
7	c.883G>A	-	r.(?)	p.(Glu295Lys)	SEPN1_00088	-	germline (inherited)	-	DNA	SEQ	-	-
7	c.893T>C	-	r.(?)	p.(Leu298Pro)	SEPN1_00091	-	germline (inherited)	-	DNA	SEQ	-	-
7	c.943G>A (Reported 61 times)	-	r.(?)	p.(Gly315Ser)	SEPN1_00011	-	germline (inherited)	Ferreiro 2002, (OMIM 0008)	DNA	SSCA, DHPLC, SEQ	-	-
7	c.944G>A	-	r.(?)	p.(Gly315Asp)	SEPN1_00092	-	germline (inherited)	-	DNA	SEQ	-	-
7	c.965_967delinsCATCATCT	965_967delACGinsCATCATCT	r.(?)	p.(Asp322Alafs*20)	SEPN1_00072	-	germline (inherited)	-	DNA	SEQ	-	-
7	c.981C>T (Reported 3 times)	(R327R)	r.(?)	p.(=)	SEPN1_00012	control chromosomes	germline (inherited)	Allamand 2006	DNA	SSCA, SEQ	10/340	-
7	c.988delC	-	r.(?)	p.(Arg330Glyfs*10)	SEPN1_00047	-	germline (inherited)	-	DNA	SEQ	-	-
7	c.997_1000del (Reported 2 times)	997_1001delGTGC	r.(?)	p.(Val333Profs*6)	SEPN1_00065	-	germline (inherited)	-	DNA	SEQ	-	-
7i	c.1011-26G>T	-	r.(?)	p.(?)	SEPN1_00086	-	germline (inherited)	-	DNA	SEQ	-	-
8	c.1019A>T (Reported 2 times)	-	r.(?)	p.(Asn340Ile)	SEPN1_00013	-	germline (inherited)	Ferreiro 2002	DNA	SSCA, DHPLC, SEQ	-	-
8	c.1021G>A	-	r.(?)	p.(Val341Met)	SEPN1_00031	-	germline (inherited)	-	DNA	SEQ	-	-
8	c.1076T>C (Reported 2 times)	-	r.(?)	p.(Ile359Thr)	SEPN1_00062	-	germline (inherited)	-	DNA	SEQ	-	-
8	c.1084A>G	-	r.(?)	p.(Ile362Val)	SEPN1_00078	-	germline (inherited)	-	DNA	SEQ	-	-
8i	c.1092+6C>G (Reported 5 times)	-	r.(spl?)	p.(?)	SEPN1_00030	-	germline (inherited)	-	DNA	SEQ	-	-
8i	c.1093-46C>A	-	r.(?)	p.(=)	SEPN1_00106	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
8i	c.1281+2T>C (Reported 2 times)	-	r.spl?	p.?	SEPN1_00082	-	germline (inherited)	-	DNA	SEQ	-	-
9	c.1094T>G (Reported 2 times)	-	r.(?)	p.(Met365Arg)	SEPN1_00099	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9	c.1151_1153del	-	r.(?)	p.(Ser384del)	SEPN1_00087	-	germline (inherited)	-	DNA	SEQ	-	-
9	c.1173T>C (Reported 3 times)	-	r.(?)	p.(=)	SEPN1_00014	-	germline (inherited)	dbSNP-rs760597	DNA	SEQ	0.70-0.95	-
9	c.1249C>T	-	r.(?)	p.(Arg417Cys)	SEPN1_00114	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9i	c.1281+42G>A	-	r.(?)	p.(=)	SEPN1_00107	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
9i	c.1282-41C>T	-	r.(?)	p.(=)	SEPN1_00108	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
9i	c.1282-3C>T	-	r.(=)	p.(=)	SEPN1_00032	-	germline (inherited)	-	DNA	SEQ	-	-
9i	c.1282-2A>C (Reported 6 times)	-	r.spl?	p.?	SEPN1_00040	-	germline (inherited)	-	DNA	SEQ	-	-
10	c.1315C>T (Reported 7 times)	1370C>T	r.(?)	p.(Arg439*)	SEPN1_00015	-	germline (inherited)	Tajsharghi 2005	DNA	SEQ	-	-
10	c.1329G>A	-	r.(?)	p.(=)	SEPN1_00046	-	germline (inherited)	dbSNP-rs12023720	DNA	SEQ	-	-
10	c.1332_1334del (Reported 3 times)	1332_1334delCAA	r.(?)	p.(Asn444del)	SEPN1_00063	-	germline (inherited)	-	DNA	SEQ	-	-
10	c.1358G>C (Reported 3 times)	-	r.(?)	p.(Trp453Ser)	SEPN1_00016	-	germline (inherited)	Ferreiro 2002, (OMIM 0005)	DNA	SSCA, DHPLC, SEQ	-	-
10	c.1384T>G (Reported 4 times)	-	r.(?)	p.(Scy462Gly)	SEPN1_00017	-	germline (inherited)	Ferreiro 2002, (OMIM 0007)	DNA	SSCA, DHPLC, SEQ	-	-
10	c.1385G>A (Reported 2 times)	-	r.(?)	p.(Scy462*)	SEPN1_00018	-	germline (inherited)	Moghadaszadeh 2001, (OMIM 0002)	DNA	SSCA, SEQ	-	-
10	c.1386A>G (Reported 2 times)	-	r.(?)	p.(Scy462Gly)	SEPN1_00019	mRNA level 0.37	germline (inherited)	Allamand 2006	DNA	SEQ	-	-
10i	c.1387+1G>A	-	r.spl?	p.?	SEPN1_00084	-	germline (inherited)	-	DNA	SEQ	-	-
10i	c.1387+11C>T	-	r.(?)	p.(=)	SEPN1_00109	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
11	c.1388G>T (Reported 3 times)	-	r.(spl?)	p.(Glu463Val)	SEPN1_00051	cloned in pUGA2SECIS; in vitro Sec insertion efficiency reduced	germline (inherited)	Maiti 2009	DNA	SEQ	-	-
11	c.1396C>T	-	r.(?)	p.(Arg466Trp)	SEPN1_00090	-	germline (inherited)	-	DNA	SEQ	-	-
11	c.1397G>A (Reported 20 times)	-	r.(?)	p.(Arg466Gln)	SEPN1_00020	-	germline (inherited)	Moghadaszadeh 2001, (OMIM 0004)	DNA	SSCA, SEQ	-	-
11	c.1405C>T (Reported 10 times)	-	r.(?)	p.(Arg469Trp)	SEPN1_00026	cloned in pUGA2SECIS; Sec in vitro insertion efficiency unaffected	germline (inherited)	Maiti 2009	DNA	SEQ	-	-
11	c.1406G>A (Reported 7 times)	-	r.(?)	p.(Arg469Gln)	SEPN1_00052	cloned in pUGA2SECIS; Sec in vitro insertion efficiency unaffected	germline (inherited)	Maiti 2009	DNA	SEQ	-	-
11	c.1446delC (Reported 3 times)	1446delC	r.(?)	p.(Asn483Thrfs*11)	SEPN1_00021	mRNA level 0.04	germline (inherited)	Moghadaszadeh 2001, Allamand 2006	DNA	SSCA, SEQ	-	-
11	c.1469G>A	-	r.(?)	p.(Trp490*)	SEPN1_00057	-	germline (inherited)	-	DNA	SEQ	-	-
11	c.1469G>T (Reported 3 times)	-	r.(?)	p.(Trp490Leu)	SEPN1_00054	-	germline (inherited)	Sponholz 2006, Schara 2008	DNA	SEQ	-	-
11i	c.1500+7G>A	-	r.(?)	p.(=)	SEPN1_00110	-	unknown	from website Emory Genetics Lab	DNA	SEQ	-	-
11i	c.1501-31C>T (Reported 2 times)	-	r.(=)	p.(=)	SEPN1_00033	-	germline (inherited)	-	DNA	SEQ	-	-
12	c.1506C>A (Reported 4 times)	-	r.(?)	p.(Asn520Lys)	SEPN1_00022	-	germline (inherited)	dbSNP-rs2294228	DNA	SEQ	0.04-0.95	-
12	c.1574T>G (Reported 2 times)	-	r.(?)	p.(Met525Arg)	SEPN1_00045	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
12	c.1578_1580del	-	r.(?)	p.(Met526del)	SEPN1_00058	-	germline (inherited)	-	DNA	SEQ	-	-
12	c.1592A>G	-	r.(?)	p.(Asn531Ser)	SEPN1_00085	-	germline (inherited)	-	DNA	SEQ	-	-
12	c.1596C>T	-	r.(?)	p.(=)	SEPN1_00025	-	germline (inherited)	-	DNA	SEQ	-	-

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Legend: [ SEPN1 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 SEPN1 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

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