All variants in the COL2A1 gene

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

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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.170G>A r.(?) p.(Cys57Tyr) - pathogenic g.48393824C>T g.48000041C>T - - COL2A1_000174 - PubMed: McAlinden 2008 - - Unknown - - - 0 - Isabelle Touitou
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