All variants in the DHX30 gene

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

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 11 c.1478G>A r.(?) p.(Arg493His) - pathogenic g.47888040G>A g.47846550G>A - - DHX30_000003 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.1478G>A r.(?) p.(Arg493His) - pathogenic g.47888040G>A g.47846550G>A - - DHX30_000003 - - - - De novo yes - - 0 - Davor Lessel
+/. - c.1478G>A r.(?) p.(Arg493His) - pathogenic g.47888040G>A g.47846550G>A - - DHX30_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.1478G>A r.(?) p.(Arg493His) - pathogenic (dominant) g.47888040G>A g.47846550G>A - - DHX30_000003 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.1478G>A r.(?) p.(Arg493His) - pathogenic (dominant) g.47888040G>A g.47846550G>A - - DHX30_000003 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
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