All variants in the RPS6KA3 gene

Information The variants shown are described using the NM_004586.2 transcript reference sequence.

1 entry on 1 page. Showing entry 1.
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.2185C>T r.(?) p.(Arg729Trp) - pathogenic g.20173554G>A g.20155436G>A RPS6KA3(NM_004586.3):c.2185C>T (p.R729W) - RPS6KA3_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
Legend   How to query