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     
+?/. 8i c.610-7G>A r.spl? p.(=) - likely pathogenic g.48389709C>T g.47995926C>T - - COL2A1_000394 - - - - Unknown - - - 0 - Isabelle Touitou
-?/. - c.610-7G>A r.(=) p.(=) - likely benign g.48389709C>T g.47995926C>T COL2A1(NM_001844.4):c.610-7G>A (p.(=), ) - COL2A1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.610-7G>A r.(=) p.(=) - benign g.48389709C>T g.47995926C>T COL2A1(NM_001844.4):c.610-7G>A (p.(=), ) - COL2A1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.610-7G>A r.(=) p.(=) - benign g.48389709C>T - COL2A1(NM_001844.4):c.610-7G>A (p.(=), ) - COL2A1_000394 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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