All variants in the RPS6KA3 gene

Information The variants shown are described using the NM_004586.2 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.1921_1922del r.(?) p.(Ser641TrpfsTer72) - pathogenic g.20179799_20179800del g.20161681_20161682del RPS6KA3(NM_004586.3):c.1921_1922delAG (p.S641Wfs*72) - RPS6KA3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
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