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.426A>T r.(?) p.(Glu142Asp) - benign g.48391657T>A g.47997874T>A COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp), p.E142D) - COL2A1_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.426A>T r.(?) p.(Glu142Asp) - benign g.48391657T>A g.47997874T>A COL2A1(NM_001844.4):c.426A>T (p.(Glu142Asp), p.E142D) - COL2A1_000600 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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