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     
+/. 6 c.409C>T r.(?) p.(Arg137Cys) - pathogenic g.48391674G>A g.47997891G>A - - COL2A1_000390 - - - - Unknown - - - 0 - Isabelle Touitou
+/. 6 c.409C>T r.(?) p.(Arg137Cys) - pathogenic g.48391674G>A g.47997891G>A - - COL2A1_000390 VUS or incomplete penetrance Barat-Houari et al, pers.comm. - - Unknown - - - 0 - Isabelle Touitou
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