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.1304_1307del r.(?) p.(Val435Alafs*15) - pathogenic g.20190912_20190915del g.20172794_20172797del - - RPS6KA3_000054 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs797045920 Germline - 1/2784 individuals - 0 - Mohammed Faruq
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