All variants in the COL2A1 gene

Information The variants shown are described using the NM_001844.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
+/. 2 c.166_167del r.(?) p.(Val56Leufs*2) - pathogenic g.48393830_48393831del g.48000047_48000048del 4269 del 2 bp with a frameshift: stop in exon 2 - COL2A1_000058 - PubMed: Richards 2000 - - Unknown - - - 0 - Isabelle Touitou
+/. 2 c.166_167del r.(?) p.(Val56Leufs*2) - pathogenic g.48393830_48393831del g.48000047_48000048del c.166_167delGT - COL2A1_000058 - PubMed: Richards 2010 - - Unknown - - - 0 - Isabelle Touitou
+/. 2 c.166_167del r.(?) p.(Val56Leufs*2) - pathogenic g.48393830_48393831del g.48000047_48000048del - - COL2A1_000058 - PubMed: Richards 2000 - - Germline yes - - 0 - Mouna Barat-Houari
+/. - c.166_167del r.(?) p.(Val56Leufs*2) - pathogenic g.48393830_48393831del g.48000047_48000048del - - COL2A1_000058 - - - - Unknown - - - 0 - Nicole Van Gundy
+?/. - c.166_167del r.(?) p.(Val56Leufs*2) - likely pathogenic g.48393830_48393831del g.48000047_48000048del COL2A1 c.166_167delGT, p.Val56fs - COL2A1_000058 heterozygous PubMed: Liu 2020 - - Germline/De novo (untested) ? 1/64 - 0 - LOVD
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