All variants in the COL2A1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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     
+/. 9 c.638G>A r.(?) p.(Gly213Asp) - pathogenic g.48389674C>T g.47995891C>T - - COL2A1_000449 - PubMed: Kannu 2011 - - Germline - - - 0 - Isabelle Touitou
+/. - c.638G>A r.(?) p.(Gly213Asp) - pathogenic g.48389674C>T - COL2A1(NM_001844.4):c.638G>A (p.G213D) - COL2A1_000449 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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