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.
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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.652-8_652-6dup r.(=) p.(=) - benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.652-8_652-6dup r.(=) p.(=) - benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-?/. - c.652-8_652-6dup r.(=) p.(=) - likely benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.652-8_652-6dup r.(=) p.(=) - likely benign g.103496816_103496818dup g.103031260_103031262dup COL11A1(NM_001190709.1):c.652-7_652-6insTTT (p.(=)), COL11A1(NM_080629.2):c.652-8_652-6dupTTT, COL11A1(NM_080629.2):c.652-9_652-7dupTTT - COL11A1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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