Full data view for gene COL6A2

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_001849.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
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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     
+/. 25i c.1970-9G>A r.spl p.(=) Paternal (confirmed) - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - - - - Germline - - - - - DNA PCR, SEQ - - ? ? - unaffected carrier parents M - United States Hispanic - - - - 2 Tom Winder
+?/. 25i c.1970-9G>A r.[=, 1969_1970ins1970-7_1970-1] p.[=, Gly657Alafs*18] Paternal (confirmed) - likely pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 RNA expression variant 1/6.5 PubMed: Martoni 2009 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A ? PubMed: Martoni 2009 - - - Italy - - - - - 1 Alessandra Ferlini
+/. 25i c.1970-9G>A r.[=, 1969_1970ins1970-7_1970-1] p.[=, Thr656fs*] Both (homozygous) - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - - - - Germline ? - - - - DNA, RNA RT-PCR, SEQ - - UCMD ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. 25i c.1970-9G>A r.1789_1790ins1790-7_1790-1 p.Glu656Alafs*17 Parent #2 - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - L Medne ASHG 2010 A1669 - - Germline - - - - - DNA arraySNP - - UCMD ? L Medne ASHG 2010 A1669 - ? - - - - - - - 1 Johan den Dunnen
+?/. 25i c.1970-9G>A r.spl? p.(=) Unknown - likely pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - - - - Germline - - - - - DNA PCR, SEQ - - ? ? - - F - United States - - - - - 1 Tom Winder
+/. 25i c.1970-9G>A r.1789_1790ins1790-7_1790-1 p.Glu656Alafs*17 Maternal (confirmed) - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - PubMed: Foley 2011 - - Germline yes - - - - DNA, RNA arrayCNV, RT-PCR - - UCMD ? PubMed: Foley 2011 2-generation family, 1 affected, unaffected carrier parents, brother carries large deletion (has global developmental delays, epilepsy) M no United States - - - - - 2 Johan den Dunnen
+?/. 25i c.1970-9G>A r.[=, 1969_1970ins1970-7_1970-1] p.[=, Gly657Alafs*18] Maternal (confirmed) - likely pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 RNA expression variant 1/6.5 PubMed: Martoni 2009 - - Germline yes - - - - DNA, RNA RT-PCR, SEQ - - BTHLM1A ? PubMed: Martoni 2009 - - - Italy - - - - - 1 Alessandra Ferlini
+/. 25i c.1970-9G>A r.spl p.(=) Maternal (confirmed) - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - - - - Germline yes - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. 25i c.1970-9G>A r.spl p.(=) Maternal (confirmed) - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - - - - Germline yes - - - - DNA SEQ - - BTHLM1A ? - - - - Italy - - - - - 1 Alessandra Ferlini
+/. - c.1970-9G>A r.(=) p.(=) Unknown - pathogenic g.47545690G>A g.46125776G>A COL6A2(NM_001849.3):c.1970-9G>A (p.?), COL6A2(NM_058175.2):c.1970-9G>A, COL6A2(NM_058175.3):c.1970-9G>A - COL6A2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 25i c.1970-9G>A r.spl p.(=) Parent #1 - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 - PubMed: Nallamilli 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - targeted gene panel LGMD 30564623-Pat PubMed: Nallamilli 2018 - - - (United States) - - - - - 1 Madhuri Hegde
+/. 25i c.1970-9G>A r.spl p.(=) Parent #1 - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 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
+/. 25i c.1970-9G>A r.spl p.(=) Parent #1 - pathogenic g.47545690G>A g.46125776G>A - - COL6A2_000056 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.1970-9G>A r.(=) p.(=) Unknown - pathogenic g.47545690G>A - COL6A2(NM_001849.3):c.1970-9G>A (p.?), COL6A2(NM_058175.2):c.1970-9G>A, COL6A2(NM_058175.3):c.1970-9G>A - COL6A2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1970-9G>A r.spl p.? Parent #2 ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 - PubMed: Chakravorty 2020 - - Germline - - - - - DNA SEQ-NG - WES MYOP Pat33 PubMed: Chakravorty 2020 - M - India India - - - - 1 Johan den Dunnen
+/. - c.1970-9G>A r.(=) p.(=) Unknown - pathogenic g.47545690G>A - COL6A2(NM_001849.3):c.1970-9G>A (p.?), COL6A2(NM_058175.2):c.1970-9G>A, COL6A2(NM_058175.3):c.1970-9G>A - COL6A2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1970-9G>A r.spl p.(Thr658fs) Parent #1 - pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 - PubMed: Westra 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NMD Pat18 PubMed: Westra 2019 - F - - - - - - - 1 Johan den Dunnen
+/. - c.1970-9G>A r.spl p.? Both (homozygous) ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod; PMID:19309692, 20576434, 27447704, 25535305, 24314752, 21280092, 29774307 PubMed: Morel 2023, Journal: Morel 2023 - - Germline ? - - - - DNA SEQ-NG - - BTHLM F4 PubMed: Morel 2023, Journal: Morel 2023 - M - France - - - - - 1 Victor Morel
+/. - c.1970-9G>A r.spl p.? Parent #1 ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod; PMID:19309692, 20576434, 27447704, 25535305, 24314752, 21280092, 29774307 PubMed: Morel 2023, Journal: Morel 2023 - - Germline - - - - - DNA SEQ - - BTHLM F10 PubMed: Morel 2023, Journal: Morel 2023 - M - France - - - - - 1 Victor Morel
+/. 25i c.1970-9G>A r.spl p.(Thr656fs) Both (homozygous) ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod PubMed: Morel 2023, Journal: Morel 2023 - - Germline - - - - - DNA SEQ - - BTHLM F5.1/5.2 PubMed: Morel 2023, Journal: Morel 2023 family, 2 affected F - France - - - - - 2 Victor Morel
+/. 25i c.1970-9G>A r.spl p.(Thr656fs) Both (homozygous) ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod PubMed: Morel 2023, Journal: Morel 2023 - - Germline - - - - - DNA SEQ - - BTHLM F6 PubMed: Morel 2023, Journal: Morel 2023 - F - France - - - - - 1 Victor Morel
+/. 25i c.1970-9G>A r.spl p.(Thr656fs) Both (homozygous) ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod PubMed: Morel 2023, Journal: Morel 2023 - - Germline - - - - - DNA SEQ - - UCMD F7 PubMed: Morel 2023, Journal: Morel 2023 - F - France - - - - - 1 Victor Morel
+/. 25i c.1970-9G>A r.spl p.(Thr656fs) Both (homozygous) ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod PubMed: Morel 2023, Journal: Morel 2023 - - Germline - - - - - DNA SEQ - - BTHLM F8 PubMed: Morel 2023, Journal: Morel 2023 - M - France - - - - - 1 Victor Morel
+/. 25i c.1970-9G>A r.spl p.(Thr656fs) Both (homozygous) ACMG pathogenic (recessive) g.47545690G>A g.46125776G>A - - COL6A2_000056 ACMG PS3_VS, PM3_strong, PP4_mod PubMed: Morel 2023, Journal: Morel 2023 - - Germline - - - - - DNA SEQ - - BTHLM F9 PubMed: Morel 2023, Journal: Morel 2023 - M - France - - - - - 1 Victor Morel
+?/. - c.1970-9G>A r.(=) p.(=) Unknown - likely pathogenic g.47545690G>A - COL6A2(NM_001849.3):c.1970-9G>A (p.?), COL6A2(NM_058175.2):c.1970-9G>A, COL6A2(NM_058175.3):c.1970-9G>A - COL6A2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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