Full data view for gene HIST1H4E

Information The variants shown are described using the NM_003545.3 transcript reference sequence.

24 entries on 1 page. Showing entries 1 - 24.
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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.34G>T r.(?) p.(Gly12Cys) Unknown - VUS g.26204906G>T - HIST1H4E(NM_003545.4):c.34G>T (p.(Gly12Cys)) - HIST1H2BF_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.95A>C r.(?) p.(Lys32Thr) Unknown - pathogenic (dominant) g.26204967A>C g.26204739A>C - - HIST1H4E_000004 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - United States white;Hispanic - - - - 1 Johan den Dunnen
+/. - c.98C>G r.(?) p.(Pro33Arg) Unknown - pathogenic (dominant) g.26204970C>G g.26204742C>G - - HIST1H4E_000005 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Portugal;Belize;Mexico native American - - - - 1 Johan den Dunnen
+/. - c.106C>T r.(?) p.(Arg36Trp) Unknown - pathogenic g.26204978C>T g.26204750C>T HIST1H4E(NM_003545.3):c.106C>T (p.(Arg36Trp)) - HIST1H4E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.106C>T r.(?) p.(Arg36Trp) Unknown - pathogenic (dominant) g.26204978C>T g.26204750C>T - - HIST1H4E_000001 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.113T>C r.(?) p.(Leu38Pro) Unknown - pathogenic (dominant) g.26204985T>C g.26204757T>C - - HIST1H4E_000006 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - India;New Zealand - - - - - 1 Johan den Dunnen
?/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - VUS g.26204993C>T g.26204765C>T - - HIST1H4E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - pathogenic (dominant) g.26204993C>T g.26204765C>T - - HIST1H4E_000003 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - pathogenic (dominant) g.26204993C>T g.26204765C>T - - HIST1H4E_000003 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - pathogenic (dominant) g.26204993C>T g.26204765C>T - - HIST1H4E_000003 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Netherlands white;Hispanic - - - - 1 Johan den Dunnen
+/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - pathogenic (dominant) g.26204993C>T g.26204765C>T - - HIST1H4E_000003 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Italy - - - - - 1 Johan den Dunnen
+?/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - likely pathogenic g.26205008C>T g.26204780C>T H4C5(NM_003545.4):c.136C>T (p.R46C), HIST1H4E(NM_003545.3):c.136C>T (p.R46C, p.(Arg46Cys)) - HIST1H4E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - VUS g.26205008C>T g.26204780C>T H4C5(NM_003545.4):c.136C>T (p.R46C), HIST1H4E(NM_003545.3):c.136C>T (p.R46C, p.(Arg46Cys)) - HIST1H4E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - VUS g.26205008C>T - H4C5(NM_003545.4):c.136C>T (p.R46C), HIST1H4E(NM_003545.3):c.136C>T (p.R46C, p.(Arg46Cys)) - HIST1H4E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat16 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat17 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Spain Catalonia - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Israel - - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat20 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - - Asia;white - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat21 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - Tunisia - - - - - 1 Johan den Dunnen
+/. - c.136C>T r.(?) p.(Arg46Cys) Unknown - pathogenic (dominant) g.26205008C>T g.26204780C>T - - HIST1H4E_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat22 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - France - - - - - 1 Johan den Dunnen
?/. - c.167G>C r.(?) p.(Arg56Pro) Unknown - VUS g.26205039G>C - H4C5(NM_003545.4):c.167G>C (p.R56P) - HIST1H2BF_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295T>C r.(?) p.(Tyr99His) Unknown - pathogenic (dominant) g.26205167T>C g.26204939T>C - - HIST1H4E_000007 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat23 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - - white - - - - 1 Johan den Dunnen
+/. - c.295T>C r.(?) p.(Tyr99His) Unknown - pathogenic (dominant) g.26205167T>C g.26204939T>C - - HIST1H4E_000007 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat24 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - France - - - - - 1 Johan den Dunnen
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