All variants in the SOX9 gene

Information The variants shown are described using the NM_000346.3 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     
+?/. 1i c.432-2A>T r.spl p.? - likely pathogenic g.72122717A>T g.74126578A>T - - SOX9_000001 not in 100 chromosomes tested, de novo in patient - - - De novo - - - 0 - Karina Silveira
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