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     
+/. 4 c.311del r.(?) p.(Gly104Aspfs*13) - pathogenic g.48391985del g.47998202del - - COL2A1_000495 - PubMed: Kondo 2016 - - Germline yes - - 0 - Mouna Barat-Houari
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