All variants in the SOX9 gene

Information The variants shown are described using the NM_000346.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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.706A>C r.(?) p.(Thr236Pro) - likely benign g.70119704A>C g.72123563A>C SOX9(NM_000346.3):c.706A>C (p.T236P, p.(Thr236Pro)) - SOX9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.706A>C r.(?) p.(Thr236Pro) - VUS g.70119704A>C g.72123563A>C SOX9(NM_000346.3):c.706A>C (p.T236P, p.(Thr236Pro)) - SOX9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
Legend   How to query