All variants in the COL2A1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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.258C>A r.(?) p.(C86*) - pathogenic g.48393736G>T g.47999953G>T - - COL2A1_000084 - PubMed: Donoso 2002 - - Unknown - - - 0 - Johan den Dunnen
+/. 2 c.258C>A r.(?) p.(Cys86*) - pathogenic g.48393736G>T g.47999953G>T p.(Cys86*) - COL2A1_000084 - PubMed: Parma 2002 - - Germline - - - 0 - Isabelle Touitou
+/. - c.258C>A r.(?) p.(Cys86*) - pathogenic g.48393736G>T g.47999953G>T - - COL2A1_000084 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794727261 Germline - 2/2795 individuals - 0 - Mohammed Faruq
+?/. - c.258C>A r.(?) p.(Cys86*) - likely pathogenic g.48393736G>T g.47999953G>T - - COL2A1_000084 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
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