All variants in the RPS27 gene

Information The variants shown are described using the NM_001030.4 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.(?_116-2)_(226+2_?)del r.? p.? - likely pathogenic g.(?_153964040)_(153964154_?)del - - - RPS27_000001 putative deletion detected by WES CNV analysis PubMed: Ulirsch 2018 - - Germline - - - 0 - Johan den Dunnen
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