All variants in the DHX30 gene

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

48 entries on 1 page. Showing entries 1 - 48.
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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
?/. - c.723G>C r.(?) p.(Gln241His) - VUS g.47883161G>C g.47841671G>C DHX30(NM_001330990.1):c.639G>C (p.Q213H) - DHX30_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.790-20C>T r.(=) p.(=) - benign g.47884576C>T g.47843086C>T - - DHX30_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.952G>A r.(?) p.(Val318Met) - likely benign g.47887202G>A g.47845712G>A DHX30(NM_014966.3):c.835G>A (p.(Val279Met)) - DHX30_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1234C>T r.(?) p.(Arg412Cys) - VUS g.47887796C>T - DHX30(NM_001330990.1):c.1150C>T (p.R384C) - DHX30_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. - c.1254A>G r.(?) p.(Leu418=) - likely benign g.47887816A>G - DHX30(NM_138615.3):c.1254A>G (p.L418=) - DHX30_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1367C>T r.(?) p.(Ser456Phe) - VUS g.47887929C>T - DHX30(NM_138615.3):c.1367C>T (p.S456F) - DHX30_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1385G>A r.(?) p.(Gly462Glu) - pathogenic g.47887947G>A - - - DHX30_000021 - - - - De novo yes - - - - Davor Lessel
+/. 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
?/. - c.1496_1497del r.(?) p.(Val499Glyfs*25) - VUS g.47888058_47888059del - DHX30(NM_138615.3):c.1496_1497delTG (p.V499Gfs*25) - DHX30_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 11 c.1685A>G r.(?) p.(His562Arg) - pathogenic g.47888247A>G g.47846757A>G - - DHX30_000002 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.1685A>G r.(?) p.(His562Arg) - pathogenic (dominant) g.47888247A>G g.47846757A>G - - DHX30_000002 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
?/. - c.1792C>T r.(?) p.(Arg598Cys) - VUS g.47888354C>T g.47846864C>T - - DHX30_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.2174G>A r.(?) p.(Arg725His) - VUS g.47889334G>A - - - DHX30_000022 - - - - Germline yes - - - - Davor Lessel
+/. - c.2201C>A r.(?) p.(Ala734Asp) ACMG pathogenic g.47889361C>A - - - DHX30_000023 - - - - De novo yes - - - - Davor Lessel
+/. - c.2215A>G r.(?) p.(Thr739Ala) ACMG pathogenic g.47889375A>G - - - DHX30_000024 - - - - Germline - - - - - 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 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
+/. 15 c.2344C>T r.(?) p.(Arg782Trp) - pathogenic g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - Johan den Dunnen
+/. 15 c.2344C>T r.(?) p.(Arg782Trp) - pathogenic g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Eldomery 2017, Journal: Eldomery 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2344C>T r.(?) p.(Arg782Trp) - pathogenic g.47889727C>T g.47848237C>T - - DHX30_000001 - - - - De novo yes - - 0 - Davor Lessel
?/. - c.2344C>T r.(?) p.(Arg782Trp) - VUS g.47889727C>T g.47848237C>T - - DHX30_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.2344C>T r.(?) p.(Arg782Trp) - pathogenic (dominant) g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2344C>T r.(?) p.(Arg782Trp) - pathogenic (dominant) g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2344C>T r.(?) p.(Arg782Trp) - pathogenic (dominant) g.47889727C>T g.47848237C>T - - DHX30_000001 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+?/. - c.2345G>A r.(?) p.(Arg782Gln) - likely pathogenic g.47889728G>A g.47848238G>A - - DHX30_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.2345G>A r.(?) p.(Arg782Gln) ACMG pathogenic g.47889728G>A - - - DHX30_000011 - - - - De novo yes - - - - Davor Lessel
+/. - c.2353C>T r.(?) p.(Arg785Cys) - pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 - - - - De novo yes - - 0 - Davor Lessel
+/. - c.2353C>T r.(?) p.(Arg785Cys) - pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 - - - - De novo yes - - 0 - Davor Lessel
+/. - c.2353C>T r.(?) p.(Arg785Cys) - pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 - - - - De novo yes - - 0 - Davor Lessel
+?/. - c.2353C>T r.(?) p.(Arg785Cys) - likely pathogenic g.47889736C>T g.47848246C>T - - DHX30_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.2353C>T r.(?) p.(Arg785Cys) - pathogenic (dominant) g.47889736C>T g.47848246C>T - - DHX30_000005 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2353C>T r.(?) p.(Arg785Cys) - pathogenic (dominant) g.47889736C>T g.47848246C>T - - DHX30_000005 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2353C>T r.(?) p.(Arg785Cys) - pathogenic (dominant) g.47889736C>T g.47848246C>T - - DHX30_000005 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2354G>A r.(?) p.(Arg785His) - pathogenic g.47889737G>A g.47848247G>A - - DHX30_000006 - - - - De novo yes - - 0 - Davor Lessel
+/. - c.2354G>A r.(?) p.(Arg785His) - pathogenic (dominant) g.47889737G>A g.47848247G>A - - DHX30_000006 - PubMed: Lessel 2017 - - De novo - - - 0 - Johan den Dunnen
+/. - c.2389C>T r.(?) p.(Arg797*) - pathogenic g.47889772C>T - - - DHX30_000027 - - - - Germline - - - - - Davor Lessel
?/. - c.2707G>A r.(?) p.(Val903Ile) - VUS g.47890245G>A - DHX30(NM_138615.3):c.2707G>A (p.V903I) - DHX30_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.2723G>A r.(?) p.(Arg908Gln) - likely pathogenic g.47890261G>A - - - DHX30_000025 - - - - De novo - - - - - Davor Lessel
?/. - c.2863C>T r.(?) p.(Arg955Cys) - VUS g.47890503C>T g.47849013C>T DHX30(NM_138615.3):c.2863C>T (p.R955C) - DHX30_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.2930-4C>T r.spl? p.? - likely benign g.47890678C>T g.47849188C>T DHX30(NM_014966.3):c.2813-4C>T (p.?) - DHX30_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. - c.3312C>T r.(?) p.(Asp1104=) - benign g.47891240C>T g.47849750C>T - - DHX30_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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