All variants in the COL11A1 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.1074del r.(?) p.(Asn359MetfsTer19) - likely pathogenic g.103488352del g.103022796del COL11A1(NM_080629.2):c.1227delT (p.N410Mfs*19) - COL11A1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/+ 7 c.1074del r.(?) p.(Asn359Metfs*19) - pathogenic g.103488352del g.103022796del - - COL11A1_000074 - MORL Deafness Variation Database, PubMed: Alzahrani 2012 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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