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     
+/. 2 c.237del r.(?) p.(Ile80Serfs*37) - pathogenic g.48393757del g.47999974del 237delG - COL2A1_000139 - PubMed: Yoshida 2006 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.237del r.(?) p.(Ile80Serfs*37) - likely pathogenic g.48393757del g.47999974del - - COL2A1_000494 - PubMed: Yoshida S - - Germline ? - - 0 - Mouna Barat-Houari
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