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     
+/. - c.475_485del r.(?) p.(Glu159Argfs*89) - pathogenic g.70118903_70118913del g.72122762_72122772del - - SOX9_000016 - - - - Unknown - - - 0 - IMGAG
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