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.141G>A r.(?) p.(Trp47*) - pathogenic g.48393853C>T g.48000070C>T 4246 G-A W47X (N-propeptide) - COL2A1_000056 - PubMed: Richards 2000 - - Germline - - - 0 - Isabelle Touitou
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