All variants in the COL11A1 gene

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

3 entries on 1 page. Showing entries 1 - 3.
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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.328G>C r.(?) p.(Gly110Arg) - VUS g.103544374C>G g.103078818C>G COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R) - COL11A1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.328G>C r.(?) p.(Gly110Arg) - likely benign g.103544374C>G g.103078818C>G COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R) - COL11A1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.328G>C r.(?) p.(Gly110Arg) - likely benign g.103544374C>G - COL11A1(NM_001190709.1):c.328G>C (p.(Gly110Arg)), COL11A1(NM_080629.2):c.328G>C (p.G110R) - COL11A1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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