All variants in the COL11A1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.904G>C r.(?) p.(Glu302Gln) - likely benign g.103488522C>G g.103022966C>G COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q) - COL11A1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.904G>C r.(?) p.(Glu302Gln) - benign g.103488522C>G g.103022966C>G COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q) - COL11A1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.904G>C r.(?) p.(Glu302Gln) - likely benign g.103488522C>G g.103022966C>G COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q) - COL11A1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.904G>C r.(?) p.(Glu302Gln) - likely benign g.103488522C>G g.103022966C>G COL11A1(NM_001190709.1):c.904G>C (p.(Glu302Gln)), COL11A1(NM_080629.2):c.1057G>C (p.E353Q) - COL11A1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
Legend   How to query