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.958_962dup r.(?) p.(Ile321MetfsTer64) - likely pathogenic g.70119956_70119960dup g.72123815_72123819dup SOX9(NM_000346.3):c.957_958insGGCAT (p.(Ile321MetfsTer64)) - SOX9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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