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.

39 entries on 1 page. Showing entries 1 - 39.
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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     

Panel size     

Owner     
+?/. - c.930+189C>T r.(=) p.(=) Unknown - likely pathogenic g.47409881C>T g.45989967C>T - - COL6A1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 11I c.930+189C>T r.930_931ins930+116_930+187 p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Cummings 2017, PubMed: Bolduc 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MD N31/US1 PubMed: Cummings 2017, PubMed: Bolduc 2019 - F - Mexico Hispanic - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.930_931ins930+116_930+187 p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Cummings 2017, PubMed: Bolduc 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MD N32/US2 PubMed: Cummings 2017, PubMed: Bolduc 2019 - M - United States white;Jewish-Ashkenazi - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US3 PubMed: Bolduc 2019 - M - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US4 PubMed: Bolduc 2019 - F - United States white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US5 PubMed: Bolduc 2019 - F - United States white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US6 PubMed: Bolduc 2019 - F - United States white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US7 PubMed: Bolduc 2019 - F - United States white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US8 PubMed: Bolduc 2019 - F - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US9 PubMed: Bolduc 2019 - M - United States American African - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US10 PubMed: Bolduc 2019 - M - Guatemala;Costa Rica Hispanic - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD US11 PubMed: Bolduc 2019 - M - United States Hispanic - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD CA1 PubMed: Bolduc 2019 - F - India Asian - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD CA2 PubMed: Bolduc 2019 - M - Canada Bengali; Asian - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD CA3 PubMed: Bolduc 2019 - M - Canada white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD CH1 PubMed: Bolduc 2019 - F - Chile Hispanic - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD G1 PubMed: Bolduc 2019 - M - Germany white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IR1 PubMed: Bolduc 2019 - M - Ireland white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD L1 PubMed: Bolduc 2019 - M - Latvia white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD R1 PubMed: Bolduc 2019 - F - Romania white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.930_931ins930+116_930+187 p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Cummings 2017, PubMed: Bolduc 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MD N29/UK1 PubMed: Cummings 2017, PubMed: Bolduc 2019 - M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.930_931ins930+116_930+187 p.Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Cummings 2017, PubMed: Bolduc 2019 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES MD N30/UK2 PubMed: Cummings 2017, PubMed: Bolduc 2019 - M - Ireland white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD UK3 PubMed: Bolduc 2019 - F - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD UK4 PubMed: Bolduc 2019 - F - Greece white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD UK5 PubMed: Bolduc 2019 - F - Spain white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD F1 PubMed: Bolduc 2019 - M - France white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD F2 PubMed: Bolduc 2019 - F - France;Algeria white; African - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IT1 PubMed: Bolduc 2019 - F - Italy white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IT2 PubMed: Bolduc 2019 - F - Italy white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IT3 PubMed: Bolduc 2019 - M - Italy white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IT4 PubMed: Bolduc 2019 - F - Italy white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IT5 PubMed: Bolduc 2019 - M - Italy white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD A1 PubMed: Bolduc 2019 - F - Australia white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD S1 PubMed: Bolduc 2019 - M - Spain white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD S2 PubMed: Bolduc 2019 - F - Spain white - - - - 1 Johan den Dunnen
+/. 11I c.930+189C>T r.(930_931ins930+116_930+188) p.(=) Parent #1 - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 - PubMed: Bolduc 2019 - - Germline - - - - - DNA SEQ - - MD IS1 PubMed: Bolduc 2019 - F - - white;Middle Eastern - - - - 1 Johan den Dunnen
+/. - c.930+189C>T r.930_931ins(?) p.(=) Unknown - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 pseudo exon creation PubMed: Lee 2019 ClinVar-000837714.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG muscle, fibroblast WES ? Pat7 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.930+189C>T r.930_931ins(?) p.(=) Unknown - pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 pseudo exon creation PubMed: Lee 2019 ClinVar-000837714.1 - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG muscle WES ? Pat38 PubMed: Lee 2019 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.930+189C>T r.(930_931ins930+116_930+187) p.(Lys310_Gly311insTRSTAPRRPLHLEGQGQPPRHPAK) Unknown ACMG pathogenic (dominant) g.47409881C>T g.45989967C>T - - COL6A1_000235 ACMG PS2_VS, PS3, PS4, PM1, PM2_sup, PP4; PMID: 28424332, 30895940, 31607746 PubMed: Morel 2023, Journal: Morel 2023 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG - - BTHLM F18 PubMed: Morel 2023, Journal: Morel 2023 - M - France - - - - - 1 Victor Morel
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