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.
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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.710dup r.(?) p.(Pro238ThrfsTer14) - benign g.70119708dup g.72123567dup SOX9(NM_000346.3):c.710dup (p.(Pro238Thrfs*14)), SOX9(NM_000346.3):c.710dupC (p.P238Tfs*14) - SOX9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.710dup r.(?) p.(Pro238ThrfsTer14) - likely benign g.70119708dup g.72123567dup SOX9(NM_000346.3):c.710dup (p.(Pro238Thrfs*14)), SOX9(NM_000346.3):c.710dupC (p.P238Tfs*14) - SOX9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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