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.1630A>G r.(?) p.(Asn544Asp) - pathogenic g.20183151T>C g.20165033T>C RPS6KA3 N544D - RPS6KA3_000037 - PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
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