Full data view for gene COL6A1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp).
Information The variants shown are described using the NM_001848.2 transcript reference sequence.

43 entries on 1 page. Showing entries 1 - 43.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

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Owner     
+?/. 14i c.1056+1G>A r.spl p.? Unknown - likely pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 Essential splice site mutation predicted damaging in mutation taster and reported pathogenic in ClinVar. Not present in EXAC or other control populations. MYO-SEQ project, UK - - De novo - - - - - DNA SEQ-NG-I blood - BTHLM1A MYO-SEQ Pat36 MYO-SEQ project, UK - M ? United Kingdom (Great Britain) - - - - - 1 Alison Blain
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lampe 2005 - - Germline - - - - - DNA, RNA SEQ - - BTHLM1A ? PubMed: Lampe 2005 - - - - - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A IVS14+1G>A - COL6A1_000015 protein domain TH PubMed: LamandÈ 1999, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A ? PubMed: LamandÈ 1999 - M - - - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH; de novo, in patient PubMed: Pan 2003, OMIM:var0006 - - De novo - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A ? PubMed: Pan 2003 - M - - - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lucioli 2005, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A P10 PubMed: Lucioli 2005 unrelated patients - - - - - - - - 1 Anne Lampe
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lucioli 2005, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A ? PubMed: Lucioli 2005 unrelated patients - - - - - - - - 1 Anne Lampe
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lucioli 2005, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A ? PubMed: Lucioli 2005 unrelated patients - - - - - - - - 1 Anne Lampe
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lucioli 2005, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A P7 PubMed: Lucioli 2005 unrelated patients - - - - - - - - 1 Anne Lampe
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lucioli 2005, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A P8 PubMed: Lucioli 2005 unrelated patients - - - - - - - - 1 Anne Lampe
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lucioli 2005, OMIM:var0006 - - Germline - - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A P9 PubMed: Lucioli 2005 unrelated patients - - - - - - - - 1 Anne Lampe
+/. 14i c.1056+1G>A r.spl? p.(del?) Parent #1 - pathogenic g.47410741G>A g.45990827G>A IVS14+1G-A - COL6A1_000015 protein domain TH PubMed: Baker 2007, OMIM:var0006 - - Germline - - - - - DNA SEQ - - BTHLM1A ? PubMed: Baker 2007 - M - United States - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.spl? p.(del?) Parent #1 - pathogenic g.47410741G>A g.45990827G>A IVS14+1G-A - COL6A1_000015 protein domain TH PubMed: Baker 2007, OMIM:var0006 - - Germline - - - - - DNA SEQ - - BTHLM1A ? PubMed: Baker 2007 - F - Belgium - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.1003_1056del p.Gly335_Asp352del Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 protein domain TH PubMed: Lampe 2005 - - Germline - - - - - DNA, RNA SEQ - - BTHLM1A ? PubMed: Lampe 2005 2 affecteds - - - - - - - - 2 Johan den Dunnen
+/. 14i c.1056+1G>A r.spl? p.(del?) Unknown - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline - - - - - DNA PCR, SEQ - - BTHLM1A ? - - - - (United States) Hispanic - - - - 1 Tom Winder
+/. 14i c.1056+1G>A r.spl? p.(del?) Unknown - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline - - - - - DNA PCR, SEQ - - BTHLM1A ? - - M - United States - - - - - 1 Tom Winder
+/. 14i c.1056+1G>A r.spl? p.? Unknown - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline - - - - - DNA PCR, SEQ - - UCMD ? - - M - United States - - - - - 1 Tom Winder
+/. 14i c.1056+1G>A r.spl p.? Unknown - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline - - - - - DNA PCR, SEQ - - BTHLM1A ? - - F - United States - - - - - 1 Tom Winder
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline ? - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline ? - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. 14i c.1056+1G>A r.spl p.? Paternal (confirmed) - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline yes - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. 14i c.1056+1G>A r.spl p.? Maternal (confirmed) - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline ? - - - - DNA SEQ - - BTHLM1A ? - - - - Spain - - - - - 1 Alessandra Ferlini
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline ? - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline ? - - - - DNA SEQ - - BTHLM1A ? - - - - Spain - - - - - 1 Alessandra Ferlini
+/. - c.1056+1G>A r.spl? p.? Unknown - pathogenic g.47410741G>A g.45990827G>A COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A - COL6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1056+1G>A r.spl? p.? Unknown - pathogenic g.47410741G>A g.45990827G>A COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A - COL6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 14 c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 no second variant in COL6A1 PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 14i c.1056+1G>A r.spl p.? Parent #1 - pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 no second variant PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+?/. - c.1056+1G>A r.spl p.? Parent #1 - likely pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Park 2017 - - Germline - 1/209 cases - - - DNA SEQ, SEQ-NG - 69-gene panel muscular disorder MD Pat121 PubMed: Park 2017 - F - Korea - - - - - 1 Johan den Dunnen
+/. - c.1056+1G>A r.spl? p.? Unknown - pathogenic g.47410741G>A - COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A - COL6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1056+1G>A r.spl p.? Unknown - likely pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - DNA SEQ, SEQ-NG - WES LGMD - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - 1 Johan den Dunnen
+/. - c.1056+1G>A r.spl? p.? Unknown - pathogenic g.47410741G>A - COL6A1(NM_001848.2):c.1056+1G>A, COL6A1(NM_001848.3):c.1056+1G>A - COL6A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1056+1G>A r.spl p.? Unknown ACMG pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat32 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.spl p.? Maternal (confirmed) - pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Fan 2018 - - Germline - - - - - DNA SEQ - COL6A1, COL6A2, COL6A3 MD B8 PubMed: Fan 2018 - - - China - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.spl p.? Unknown - pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Fan 2018 - - De novo - - - - - DNA SEQ - COL6A1, COL6A2, COL6A3 MD B13 PubMed: Fan 2018 - - - China - - - - - 1 Johan den Dunnen
+/. 14i c.1056+1G>A r.spl p.? Unknown - pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Fan 2018 - - De novo - - - - - DNA SEQ - COL6A1, COL6A2, COL6A3 MD U38 PubMed: Fan 2018 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.1056+1G>A r.spl p.? Parent #1 - likely pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P39 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1056+1G>A r.spl p.? Parent #1 - likely pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P44 PubMed: Gonzalez-Quereda 2020 patient F - Spain - - - - - 1 Johan den Dunnen
+?/. - c.1056+1G>A r.spl p.? Parent #1 - likely pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - PubMed: Gonzalez-Quereda 2020 - - Germline - - - - - DNA SEQ, SEQ-NG - 166-gene panel NMD P203 PubMed: Gonzalez-Quereda 2020 patient M - Spain - - - - - 1 Johan den Dunnen
+/. - c.1056+1G>A r.spl p.? Parent #1 ACMG pathogenic g.47410741G>A g.45990827G>A - - COL6A1_000015 - - - - Germline - - - - - DNA SEQ-NG blood - UCMD - - - M yes China - - - - - 2 Yi-fanCao
+/. 14i c.1056+1G>A r.spl p.? Unknown ACMG pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 ACMG PS2_VS, PS3_VS, PP1_strong, PS3, PS4, PM2_sup, PP3, PP4 Morel et al. submitted - - De novo yes - - - - DNA SEQ-NG-IT - - UCMD - Morel et al. submitted - - - France - - - - - 1 Svetlana Gorokhova
+/. - c.1056+1G>A r.spl p.? Unknown ACMG pathogenic (dominant) g.47410741G>A g.45990827G>A - - COL6A1_000015 ACMG PS2_VS, PP1_strong, PS3_VS, PS4, PP4_mod, PM2_sup; PMID:10419498, 15689448, 15955946, 17886299, 27363342, 29419890, 25749816, 24271325, 28831785 PubMed: Morel 2023, Journal: Morel 2023 VCV000017174.44 - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - BTHLM F19 PubMed: Morel 2023, Journal: Morel 2023 - M - France - - - - - 1 Victor Morel
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