All variants in the COL2A1 gene

Information The variants shown are described using the NM_001844.4 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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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.708+8C>T r.(=) p.(=) - benign g.48389485G>A g.47995702G>A COL2A1(NM_001844.4):c.708+8C>T (, p.(=)) - COL2A1_000651 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.708+8C>T r.(=) p.(=) - likely benign g.48389485G>A - COL2A1(NM_001844.4):c.708+8C>T (, p.(=)) - COL2A1_000651 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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