All variants in the COL11A1 gene

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

1 entry on 1 page. Showing entry 1.
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     
+?/+? 16 c.1674G>A r.(=) p.(=) - likely pathogenic g.103471624C>T g.103006068C>T - - COL11A1_000245 - MORL Deafness Variation Database, PubMed: Acke 2014 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
Legend   How to query