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     
-/. - c.504C>A r.(=) p.(=) - benign g.48391416G>T g.47997633G>T - - COL2A1_000461 - - - rs3737548 Germline - - - 0 - Andreas Laner
-/. - c.504C>A r.(?) p.(Gly168=) - benign g.48391416G>T g.47997633G>T COL2A1(NM_001844.4):c.504C>A (p.G168=), COL2A1(NM_001844.5):c.504C>A (p.G168=) - COL2A1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.504C>A r.(?) p.(Gly168=) - benign g.48391416G>T g.47997633G>T COL2A1(NM_001844.4):c.504C>A (p.G168=), COL2A1(NM_001844.5):c.504C>A (p.G168=) - COL2A1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.504C>A r.(?) p.(Gly168=) - benign g.48391416G>T g.47997633G>T COL2A1(NM_001844.4):c.504C>A (p.G168=), COL2A1(NM_001844.5):c.504C>A (p.G168=) - COL2A1_000461 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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