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.1513-2del r.spl? p.? - likely pathogenic g.103474074del g.103008518del - - COL11A1_000006 - PubMed: Zazo Seco 2017, Journal: Zazo Seco 2017 - - Germline - - - 0 - Mieke Wesdorp
+/. - c.1513-2del r.spl? p.? - pathogenic g.103474074del g.103008518del - - COL11A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/+ 13i c.1513-2del r.spl? p.? - pathogenic g.103474074del g.103008518del - - COL11A1_000006 - MORL Deafness Variation Database, PubMed: Martin 1999 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
+/. - c.1513-2del r.spl p.? - pathogenic (dominant) g.103474074del - 1666-2delA - COL11A1_000006 - PubMed: Zhou 2018 - - Germline - - - 0 - LOVD
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