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.192C>A r.(?) p.(Cys64*) - pathogenic g.48393802G>T g.48000019G>T - - COL2A1_000175 - PubMed: McAlinden 2008 - - Unknown - - - 0 - Isabelle Touitou
+/+ 2 c.192C>A r.(?) p.(Cys64*) - pathogenic g.48393802G>T g.48000019G>T - - COL2A1_000175 - PubMed: McAlinden 2008 - - Unknown - - - 0 - Isabelle Touitou
+/. 2 c.192C>A r.(?) p.(Cys64*) - pathogenic g.48393802G>T g.48000019G>T - - COL2A1_000175 - PubMed: Richards 2010 - - Unknown - - - 0 - Isabelle Touitou
+/. - c.192C>A r.(?) p.(Cys64Ter) - pathogenic g.48393802G>T g.48000019G>T COL2A1(NM_001844.5):c.192C>A (p.C64*) - COL2A1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. - c.192C>A r.(?) p.(Cys64Ter) - pathogenic g.48393802G>T g.48000019G>T COL2A1(NM_001844.5):c.192C>A (p.C64*) - COL2A1_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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