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     
+/. - c.598C>T r.(?) p.(Gln200*) - pathogenic (dominant) g.48390342G>A g.47996559G>A - - COL2A1_000689 - PubMed: Zhou 2018 - - Germline - - - 0 - LOVD
+?/. 8 c.598C>T r.(?) p.(Gln200*) - likely pathogenic g.48390342G>A - c.598C>T - COL2A1_000689 - PubMed: Zhou-2011 - - Unknown - - - 0 - LOVD
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