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     
+/. 9 c.647G>A r.(?) p.(Gly216Asp) - pathogenic g.48389665C>T g.47995882C>T - - COL2A1_000217 - PubMed: Hoornaert 2010 - - Unknown - - - 0 - Isabelle Touitou
+/. 9 c.647G>A r.(?) p.(Gly216Asp) - pathogenic g.48389665C>T g.47995882C>T - - COL2A1_000217 - - - - Unknown - - - 0 - Isabelle Touitou
+?/. 9 c.647G>A r.(?) p.(Gly216Asp) - likely pathogenic g.48389665C>T g.47995882C>T - - COL2A1_000217 - PubMed: Hoornaert 2010 - - Unknown - - - 0 - Isabelle Touitou
+?/. - c.647G>A r.(?) p.Gly216Asp ACMG likely pathogenic g.48389665C>T g.47995882C>T - - COL2A1_000217 ACMG grading: PP3,PM2,PM1,PP5; Glycine substitutions in the triple helical domain usually have a dramatic effect by hampering proper triple helix formation of the collagen trimer.; reported in Hoomaert 2010. EurJHumGenet 18: 872-80 - - - Germline - - - 0 - Andreas Laner
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