All variants in the COL2A1 gene

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 7 c.492del r.(?) p.(Gly165Valfs*34) - pathogenic g.48391428del g.47997645del c.492delT - COL2A1_000156 - PubMed: Richards 2006 - - Unknown - - - 0 - Isabelle Touitou
+/. 7 c.492del r.(?) p.(Gly165Valfs*34) - pathogenic g.48391428del g.47997645del c.492delT - COL2A1_000281 - PubMed: Hoornaert 2010 - - Unknown - - - 0 - Isabelle Touitou
+/. 7 c.492del r.(?) p.(Gly165Valfs*34) - pathogenic g.48391428del g.47997645del c.492delT - COL2A1_000313 - PubMed: Richards 2006 - - Unknown - - - 0 - Isabelle Touitou
+/. 7 c.492del r.(?) p.(Gly165Valfs*34) - pathogenic g.48391428del g.47997645del c.492delT - COL2A1_000156 - PubMed: Richards 2006 - - Unknown - - - 0 - Isabelle Touitou
+/. 7 c.492del r.(?) p.(Gly165Valfs*34) - pathogenic g.48391428del g.47997645del c.492delT - COL2A1_000156 - PubMed: Richards 2010 - - Unknown - - - 0 - Isabelle Touitou
+/. - c.492del r.(?) p.(Gly165ValfsTer34) - pathogenic g.48391428del g.47997645del - - COL2A1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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