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     
+?/. - c.1719_1745delinsT r.? p.? ACMG likely pathogenic (dominant) g.103470201_103471403delinsA - - - COL11A1_000272 ACMG: PVS1, PM2 class 4 - - - Germline ? - - - - Andreas Laner
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