All variants in the DHX30 gene

Information The variants shown are described using the NM_138615.2 transcript reference sequence.

4 entries on 1 page. Showing entries 1 - 4.
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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.2342G>A r.(?) p.(Gly781Asp) - pathogenic g.47889725G>A g.47848235G>A - - DHX30_000004 - - - - De novo yes - - 0 - Davor Lessel
+/. - c.2342G>A r.(?) p.(Gly781Asp) - pathogenic g.47889725G>A g.47848235G>A - - DHX30_000004 - - - - De novo yes - - 0 - Davor Lessel
+/. - c.2342G>A r.(?) p.(Gly781Asp) - pathogenic (dominant) g.47889725G>A g.47848235G>A - - DHX30_000004 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2342G>A r.(?) p.(Gly781Asp) - pathogenic (dominant) g.47889725G>A g.47848235G>A - - DHX30_000004 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
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