All variants in the COL2A1 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
-/. 1 c.25A>T r.(?) p.(Thr9Ser) - benign g.48398080T>A g.48004297T>A - - COL2A1_000401 - - - rs3803183 Germline - - - 0 - Andreas Laner
-/. - c.25A>T r.(?) p.(Thr9Ser) - benign g.48398080T>A g.48004297T>A COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S) - COL2A1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.25A>T r.(?) p.(Thr9Ser) - benign g.48398080T>A g.48004297T>A COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S) - COL2A1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.25A>T r.(?) p.(Thr9Ser) - benign g.48398080T>A g.48004297T>A COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S) - COL2A1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.25A>T r.(?) p.(Thr9Ser) - benign g.48398080T>A - COL2A1(NM_001844.4):c.25A>T (p.T9S), COL2A1(NM_001844.5):c.25A>T (p.T9S) - COL2A1_000401 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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