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.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C COL11A1(NM_080629.2):c.138T>G (p.D46E) - COL11A1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C - - COL11A1_000100 123 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 Germline - 123/2789 individuals - 0 - Mohammed Faruq
-/. - c.138T>G r.(?) p.(Asp46Glu) - benign g.103548497A>C g.103082941A>C - - COL11A1_000100 3 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11164663 Germline - 3/2789 individuals - 0 - Mohammed Faruq
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