All variants in the DHX30 gene

Information The variants shown are described using the NM_138615.2 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.347_360del r.(?) p.(Ala116Valfs*12) - likely pathogenic g.47870605_47870618del g.47829115_47829128del - - DHX30_000026 - - - - De novo - - - 0 - Davor Lessel
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