All variants in the COL11A1 gene

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

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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     
+/+ 18 c.1757G>T r.(?) p.(Gly586Val) - pathogenic g.103470189C>A g.103004633C>A - - COL11A1_000243 - MORL Deafness Variation Database, PubMed: Robin 1993, PubMed: Richards 1996, PubMed: Xiong 2015 - - SUMMARY record - - - 0 - Global Variome, with Curator vacancy
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