All variants in the DHX30 gene

Information The variants shown are described using the NM_138615.2 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.1385G>A r.(?) p.(Gly462Glu) - pathogenic g.47887947G>A - - - DHX30_000021 - - - - De novo yes - - - - Davor Lessel
Legend   How to query