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     
+/. 6i c.430-1G>C r.spl p.(Lys143_Asn178delExon7); p.(Gly144Valfs*54); p.(Gln125_Gly126ins19*20) - pathogenic g.48391491C>G g.47997708C>G - - COL2A1_000280 cDNA analysis reveals that this splice site mutation generate 3 RNA isoforms PubMed: Hoornaert 2010 - - Unknown - - - 0 - Isabelle Touitou
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