Full data view for gene DHX58

Information The variants shown are described using the NM_024119.2 transcript reference sequence.

18 entries on 1 page. Showing entries 1 - 18.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-1284G>A r.(?) p.(=) Unknown - likely benign g.40265812C>T g.42113794C>T KAT2A(NM_021078.2):c.2369G>A (p.(Arg790Gln)) - DHX58_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - VUS g.40263425G>A - DHX58(NM_024119.3):c.259C>T (p.R87C) - DHX58_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630C>T r.(?) p.(His210=) Unknown - likely benign g.40261336G>A - DHX58(NM_024119.3):c.630C>T (p.H210=) - DHX58_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.841G>A r.(?) p.(Ala281Thr) Unknown - VUS g.40259778C>T - - - DHX58_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.841G>A r.(?) p.(Ala281Thr) Unknown - VUS g.40259778C>T - - - DHX58_000008 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.842C>A r.(?) p.(Ala281Glu) Unknown - VUS g.40259777G>T - - - DHX58_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.842C>A r.(?) p.(Ala281Glu) Unknown - VUS g.40259777G>T - - - DHX58_000007 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.929A>G r.(?) p.(Tyr310Cys) Unknown - VUS g.40259690T>C g.42107672T>C DHX58(NM_024119.3):c.929A>G (p.Y310C) - DHX58_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1000C>T r.(?) p.(Arg334Cys) Unknown - VUS g.40258005G>A - - - DHX58_000005 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1961G>A r.(?) p.(Arg654His) Unknown - VUS g.40253855C>T - - - DHX58_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1961G>A r.(?) p.(Arg654His) Unknown - VUS g.40253855C>T - - - DHX58_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
?/. - c.1961G>A r.(?) p.(Arg654His) Unknown - VUS g.40253855C>T - - - DHX58_000006 - PubMed: Luo 2021, Journal: Luo 2021 - - Germline - - - - - DNA SEQ-NG PBMC WES IMD74 - PubMed: Luo 2021, Journal: Luo 2021 analysis 233 patients - - China - - - - - 1 Liu Wenbing
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