View unique variants - Leiden Muscular Dystrophy pages

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The variants below are all in the COL6A1 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 COL6A1 full legend here.

146 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.-5C>G	-	r.(?)	p.(=)	COL6A1_00054	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
2	c.105C>G	-	r.(?)	p.(=)	COL6A1_00055	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
3	c.235C>T	-	r.(?)	p.(Arg79Cys)	COL6A1_00036	-	de novo	-	DNA	SEQ	-	-
3	c.347G>A (Reported 2 times)	G347A	r.347g>a	p.(Ser116Asn)	COL6A1_00001	-	germline (inherited)	Giusti 2005	DNA, RNA	RT-PCR, SEQ, DHPLC	-	-
3	c.350T>C	-	r.(?)	p.(Val117Ala)	COL6A1_00056	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
3	c.362A>G (Reported 2 times)	-	r.(?)	p.(Lys121Arg)	COL6A1_00002	0/190 control chromosomes; protein domain N1	germline (inherited)	Scacheri 2002, (OMIM 0005)	DNA	SSCA, SEQ	-	-
3i	c.428+1G>A (Reported 4 times)	IVS3+1G>A	r.363_428del	p.Tyr122_Gly143del	COL6A1_00003	0/100 control chromosomes; protein domain N1	germline (inherited)	Vanegas 2002, (OMIM 0008)	DNA, RNA	RT-PCR, HD, SEQ	-	HphI
3i	c.428+14A>G	-	r.(?)	p.(=)	COL6A1_00057	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
3i	c.428+39C>G	-	r.(?)	p.(=)	COL6A1_00058	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
3i	c.428+40G>A	-	r.(?)	p.(=)	COL6A1_00059	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
3i	c.429-19G>A	-	r.(?)	p.(=)	COL6A1_00060	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
4	c.549C>T	-	r.(?)	p.(=)	COL6A1_00061	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
4i	c.588+8C>G	-	r.(?)	p.(=)	COL6A1_00062	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
4i	c.588+12_588+13insA	-	r.(?)	p.(=)	COL6A1_00063	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
4i	c.588+13C>A	-	r.(?)	p.(=)	COL6A1_00064	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
4i	c.588+19dup	588+19dupC	r.(?)	p.(=)	COL6A1_00065	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
4i	c.588+37A>G	-	r.(?)	p.(=)	COL6A1_00066	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
5	c.645G>A	-	r.(?)	p.(=)	COL6A1_00067	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
5i	c.717+32C>T	-	r.(?)	p.(=)	COL6A1_00068	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
6i	c.738+14C>T	-	r.(?)	p.(=)	COL6A1_00069	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
6i	c.739-51C>T	-	r.(?)	p.(=)	COL6A1_00070	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
6i	c.739-2A>G (Reported 2 times)	-	r.739_759del	p.Cys247_Gln253del	COL6A1_00022	protein domain N1/TH	germline (inherited)	Lucioli 2005	DNA, RNA	RT-PCR, SEQ	-	Dsa I
6i	c.739-1G>A	-	r.739_759del	p.Cys247_Gln253del	COL6A1_00023	0/200 control chromosomes; protein domain N1/TH	germline (inherited)	Lucioli 2005	DNA, RNA	RT-PCR, SEQ	-	-
8	c.788G>A	-	r.(?)	p.(Gly263Asp)	COL6A1_00052	-	unknown	-	DNA	PCR, SEQ	-	-
8i	c.804+249_973delins6	-	r.(?)	p.(Gly269_Lys334del)	COL6A1_00026	2490 bp deletion exons 9-13; protein domain TH; de novo, in patient	de novo	Pepe 2005	DNA, RNA	RT-PCR, SEQ	-	-
8i	c.805-639_1003-16del	804+791_1003-16del	r.(?)	p.(Gly269_Asp352del)	COL6A1_00027	2313 bp deletion exons 9-14; protein domain TH	germline (inherited)	Pepe 2005	DNA, RNA	RT-PCR, SEQ	-	-
8i	c.805-572_903+7del	804+857_903+6del	r.805_903del	p.Gly269_Lys301del	COL6A1_00004	1.1 Kb deletion, protein domain TH; de novo, in patient	de novo	Pan 2003, (OMIM 0007)	DNA, RNA	RT-PCR, SEQ	-	-
8i	c.805-2A>G (Reported 2 times)	-	r.spl?	p.?	COL6A1_00050	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9	c.805G>A	-	r.(spl?)	p.(Gly269Arg)	COL6A1_00047	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9	c.815G>A	-	r.(?)	p.(Gly272Asp)	COL6A1_00025	protein domain TH	germline (inherited)	Lucioli 2005	DNA, RNA	RT-PCR, SEQ	-	-
9	c.821C>T	-	r.(?)	p.(Pro274Leu)	COL6A1_00005	protein domain TH	germline (inherited)	Lampe 2005	DNA	SEQ	-	-
9	c.823G>A	-	r.(?)	p.(Gly275Arg)	COL6A1_00024	0/200 control chromosomes; protein domain TH	germline (inherited)	Lucioli 2005	DNA, RNA	RT-PCR, SEQ	-	Msp I
9	c.824G>A	-	r.(?)	p.(Gly275Glu)	COL6A1_00145	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9	c.841G>A (Reported 3 times)	-	r.(?)	p.(Gly281Arg)	COL6A1_00006	protein domain TH	germline (inherited)	Lampe 2005	DNA	SEQ	-	-
9	c.842G>A (Reported 2 times)	-	r.(?)	p.(Gly281Glu)	COL6A1_00048	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9	c.850G>A (Reported 7 times)	-	r.(?)	p.(Gly284Arg)	COL6A1_00007	protein domain TH	germline (inherited)	Lampe 2005	DNA	SEQ	2/77	-
9	c.857delC (Reported 2 times)	856delC	r.(?)	p.(Pro286Leufs*15)	COL6A1_00019	protein domain TH	germline (inherited)	Giusti 2005, (OMIM 0009)	DNA, RNA	RT-PCR, SEQ, DHPLC	-	Msp I
9i	c.859-22A>G	-	r.(?)	p.(=)	COL6A1_00071	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
9i	c.859-20C>T	-	r.(?)	p.(=)	COL6A1_00072	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
9i	c.859-19A>G	-	r.(?)	p.(=)	COL6A1_00073	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
9i	c.859-18T>A	-	r.(?)	p.(=)	COL6A1_00074	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
9i	c.859-2A>C	-	r.spl?	p.(del?)	COL6A1_00042	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
9i	c.859-1G>C	-	r.spl?	p.(del?)	COL6A1_00046	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
10	c.860G>A	-	r.(?)	p.(Gly287Glu)	COL6A1_00041	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
10	c.868G>A (Reported 8 times)	-	r.(?)	p.(Gly290Arg)	COL6A1_00008	protein domain TH	germline (inherited)	Lampe 2005	DNA	SEQ	-	-
10	c.868G>C	-	r.(?)	p.(Gly290Arg)	COL6A1_00028	protein domain TH	germline (inherited)	Giusti 2005, (OMIM 0013)	DNA, RNA	RT-PCR, SEQ, DHPLC	-	-
10	c.869G>A	-	r.(?)	p.(Gly290Glu)	COL6A1_00039	-	germline (inherited)	-	DNA	SEQ	-	-
10	c.877G>A	-	r.(?)	p.(Gly293Arg)	COL6A1_00053	-	unknown	-	DNA	PCR, SEQ	-	-
10i	c.903+14C>A	-	r.(?)	p.(=)	COL6A1_00075	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
11	c.914G>T	962G>T	r.(?)	p.(Gly305Val)	COL6A1_00009	0/100 control chromosomes; protein domain TH	germline (inherited)	Jobsis 1996, (OMIM 0001)	DNA, RNA	RT-PCR, SEQ	-	NlaIV
11	c.928_930del	-	r.928_930del	p.Lys310del	COL6A1_00029	-	germline (inherited)	Baker 2007	DNA, RNA	RT-PCR, PTT, SEQ	-	-
11i	c.930+2T>G	-	r.spl?	p.?	COL6A1_00037	-	de novo	-	DNA	SEQ	-	-
11i	c.931-1G>A	IVS11-1G>A	r.931delG	p.Gly311Alafs*22	COL6A1_00010	mRNA 50% reduced; RNA cycloheximide; protein domain TH	germline (inherited)	Lamandé 1998, (OMIM 0002)	DNA, RNA	PTT:RT-PCR, PTT, SEQ	-	-
12i	c.957+1G>A (Reported 2 times)	-	r.931_957del	p.Gly311_Lys319del	COL6A1_00011	protein domain TH; de novo, in patient	de novo	Baker 2005	DNA, RNA	RT-PCR, SEQ	-	-
12i	c.958-17G>A	-	r.(?)	p.(=)	COL6A1_00076	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1002+37A>G	-	r.(?)	p.(=)	COL6A1_00077	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13	c.1002+42_1002+43ins(45?)	-	r.(?)	p.(=)	COL6A1_00078	from website Emory Genetics Lab, description variant incomplete	unknown	-	DNA	SEQ	-	-
13i	c.1002+43A>G	-	r.(?)	p.(=)	COL6A1_00079	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1002+43_1002+52del	1002+43_1002+52delAATGGGGCGA	r.(?)	p.(=)	COL6A1_00080	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1002+44_1002+82del	-	r.(?)	p.(=)	COL6A1_00081	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1002+45T>C	-	r.(?)	p.(=)	COL6A1_00082	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1002+50C>A	-	r.(?)	p.(=)	COL6A1_00083	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1002+50C>T	-	r.(?)	p.(=)	COL6A1_00084	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
13i	c.1003-3C>A	-	r.1003_1056del	p.Gly335_Asp352del	COL6A1_00012	protein domain TH	germline (inherited)	Lampe 2005	DNA, RNA	SEQ	1/78	-
14	c.1022G>A	1070G>A	r.(?)	p.(Gly341Asp)	COL6A1_00013	0/190 control chromosomes; protein domain TH	germline (inherited)	Scacheri 2002, (OMIM 0004)	DNA	SSCA, SEQ	-	BglI
14	c.1022G>T (Reported 2 times)	-	r.(?)	p.(Gly341Val)	COL6A1_00014	protein domain TH	germline (inherited)	Lampe 2005	DNA	SEQ	1/78	-
14	c.1024_1032del	1024_1032delCTGCCAGGC	r.(?)	p.(Leu342_Gly344del)	COL6A1_00085	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
14	c.1056C>T	-	r.(?)	p.(=)	COL6A1_00086	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
14i	c.1056+1delG (Reported 2 times)	-	r.spl?	p.(?)	COL6A1_00035	-	germline (inherited)	-	DNA	SEQ	-	-
14i	c.1056+1G>A (Reported 16 times)	-	r.1003_1056del	p.Gly335_Asp352del	COL6A1_00015	protein domain TH	germline (inherited)	Lampe 2005	DNA, RNA	SEQ	-	-
14i	c.1056+2T>C	IVS14+2T>C	r.1003_1056del	p.Gly335_Asp352del	COL6A1_00016	0/100 control chromosomes; protein domain TH; COL6A1 synthesized, not secreted	germline (inherited)	Pepe 1999, (OMIM 0003)	DNA, RNA	RT-PCR, HD, SEQ	-	HgaI
15	c.1095T>C (Reported 9 times)	-	r.1095u>c	p.=	COL6A1_00030	helix	germline (inherited)	Baker 2007	DNA, RNA	RT-PCR, PTT, SEQ	-	-
15i	c.1119+39C>T	-	r.(?)	p.(=)	COL6A1_00087	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
15i	c.1120-12G>A	-	r.(?)	p.(=)	COL6A1_00088	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
17	c.1184G>T	-	r.(?)	p.(Gly395Val)	COL6A1_00038	-	germline (inherited)	-	DNA	SEQ	-	-
18i	c.1273-8C>T	-	r.(?)	p.(=)	COL6A1_00089	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
19	c.1314G>A	-	r.(?)	p.(=)	COL6A1_00090	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
19	c.1316G>A	-	r.(?)	p.(Arg439Gln)	COL6A1_00091	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
19i	c.1335+27A>C	-	r.(?)	p.(=)	COL6A1_00092	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
19i	c.1336-17G>A	-	r.(spl?)	p.?	COL6A1_00045	-	germline (inherited)	-	DNA	PCR, SEQ	-	-
20	c.1350G>A	-	r.(?)	p.(=)	COL6A1_00093	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
20i	c.1398+10G>A	-	r.(?)	p.(=)	COL6A1_00094	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
20i	c.1399-32T>C	-	r.(?)	p.(=)	COL6A1_00095	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
21	c.1443G>A	-	r.(?)	p.(=)	COL6A1_00096	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
21i	c.1461+18C>A	-	r.(?)	p.(=)	COL6A1_00097	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
21i	c.1461+41dup	1461+41dupG	r.(?)	p.(=)	COL6A1_00098	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
21i	c.1462-36A>G	-	r.(?)	p.(=)	COL6A1_00099	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
22	c.1465delG (Reported 2 times)	1456delG	r.(?)	p.(Ala489Profs*16)	COL6A1_00020	protein domain TH	germline (inherited)	Giusti 2005, (OMIM 0010)	DNA, RNA	RT-PCR, SEQ, DHPLC	-	-
22	c.1505C>T	-	r.(?)	p.(Pro502Leu)	COL6A1_00100	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
22	c.1518T>C	-	r.(?)	p.(=)	COL6A1_00101	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
22i	c.1524+15G>A	-	r.(?)	p.(=)	COL6A1_00102	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
22i	c.1524+19G>C	-	r.(?)	p.(=)	COL6A1_00103	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
22i	c.1525-60A>G	-	r.(?)	p.(=)	COL6A1_00104	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
24	c.1603G>A	-	r.(?)	p.(Gly535Arg)	COL6A1_00051	-	unknown	-	DNA	PCR, SEQ	-	-
24i	c.1612-10G>A	-	r.(?)	p.(=)	COL6A1_00105	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
24i	c.1612-6C>T	-	r.(?)	p.(=)	COL6A1_00106	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
25	c.1665C>T	-	r.(?)	p.(=)	COL6A1_00107	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
25i	c.1675-55C>T	-	r.(?)	p.(=)	COL6A1_00108	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-
26	c.1712A>C	-	r.(?)	p.(Lys571Thr)	COL6A1_00017	no confirmatory data; protein domain TH	germline (inherited)	Lampe 2005	DNA	SEQ	1/78	-
26i	c.1740+50C>T	-	r.(?)	p.(=)	COL6A1_00109	from website Emory Genetics Lab	unknown	-	DNA	SEQ	-	-

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This database was initiated with the help of Anne Lampe, based on the review article Lampe AK, Bushby KMD (2005). Collagen VI related muscle disorders. J. Med. Genet. 42: 673-685.

Legend: [ COL6A1 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 COL6A1 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

Collagen type VI alpha 1 (COL6A1)