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     
+/. - c.1828-1G>C r.spl? p.? - likely pathogenic (dominant) g.103468825C>G g.103003269C>G NM_001854.3:c.1945-1G>C - COL11A1_000281 - PubMed: Maddirevula 2018 - - De novo - - - 0 - LOVD
Legend   How to query