Full data view for gene HIST1H1E

NOTE: gene name changed from HIST1H1E to H1-4
Information The variants shown are described using the NM_005321.2 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
Legend   How to query  

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.55C>T r.(?) p.(Pro19Ser) Unknown - likely benign g.26156673C>T - H1-4(NM_005321.3):c.55C>T (p.P19S) - HIST1H1E_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.65A>G r.(?) p.(Lys22Arg) Unknown - VUS g.26156683A>G - H1-4(NM_005321.3):c.65A>G (p.K22R), HIST1H1E(NM_005321.2):c.65A>G (p.(Lys22Arg)) - HIST1H1E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.65A>G r.(?) p.(Lys22Arg) Unknown - likely benign g.26156683A>G - H1-4(NM_005321.3):c.65A>G (p.K22R), HIST1H1E(NM_005321.2):c.65A>G (p.(Lys22Arg)) - HIST1H1E_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.107C>G r.(?) p.(Ser36Cys) Unknown - VUS g.26156725C>G g.26156497C>G HIST1H1E(NM_005321.3):c.107C>G (p.(Ser36Cys)) - HIST1H1E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.134C>T r.(?) p.(Thr45Ile) Unknown - likely benign g.26156752C>T - HIST1H1E(NM_005321.2):c.134C>T (p.(Thr45Ile)) - HIST1H1E_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.160C>T r.(?) p.(Arg54Cys) Unknown - VUS g.26156778C>T - - - HIST1H1E_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.187A>C r.(?) p.(Lys63Gln) Unknown ACMG likely pathogenic g.26156805A>C g.26156577A>C 187A>C (Lys63Gln) - HIST1H1E_000011 ACMG PS2, PM2, PP3 PubMed: Courage 2021, Journal: Courage 2021 - - De novo - - - - - DNA SEQ-NG - WES epilepsy PME_FI_C07 PubMed: Courage 2021, Journal: Courage 2021 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.225G>A r.(?) p.(Lys75=) Unknown - likely benign g.26156843G>A - HIST1H1E(NM_005321.3):c.225G>A (p.(Lys75=)) - HIST1H1E_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.257G>T r.(?) p.(Ser86Ile) Unknown - VUS g.26156875G>T - H1-4(NM_005321.3):c.257G>T (p.S86I) - HIST1H1E_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.287C>T r.(?) p.(Thr96Ile) Unknown - VUS g.26156905C>T - HIST1H1E(NM_005321.2):c.287C>T (p.(Thr96Ile)) - HIST1H1E_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.332C>T r.(?) p.(Ala111Val) Unknown - likely benign g.26156950C>T - H1-4(NM_005321.3):c.332C>T (p.A111V) - HIST1H1E_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.347C>T r.(?) p.(Ala116Val) Unknown - likely benign g.26156965C>T - HIST1H1E(NM_005321.2):c.347C>T (p.(Ala116Val)) - HIST1H1E_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.375G>T r.(?) p.(=) Unknown - likely benign g.26156993G>T - HIST1H1E(NM_005321.3):c.375G>T (p.(Ala125=)) - HIST1H1E_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.376G>A r.(?) p.(Ala126Thr) Unknown - likely benign g.26156994G>A - HIST1H1E(NM_005321.2):c.376G>A (p.(Ala126Thr)) - HIST1H1E_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.406A>C r.(?) p.(Lys136Gln) Unknown - VUS g.26157024A>C - HIST1H1E(NM_005321.2):c.406A>C (p.(Lys136Gln)) - HIST1H1E_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.408dup r.(?) p.(Lys137Glufs*59) Unknown - pathogenic g.26157026dup - - - HIST1H1E_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.414dup r.(?) p.(Lys139GlnfsTer57) Unknown - likely pathogenic g.26157032dup g.26156804dup HIST1H1E(NM_005321.2):c.411_412insC (p.(Lys139GlnfsTer57)) - HIST1H1E_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430dup r.(?) p.(Ala144GlyfsTer52) Unknown - pathogenic g.26157048dup g.26156820dup H1-4(NM_005321.3):c.430dupG (p.A144Gfs*52) - HIST1H1E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430dup r.(?) p.(Ala144GlyfsTer52) Unknown - pathogenic g.26157048dup - H1-4(NM_005321.3):c.430dupG (p.A144Gfs*52) - HIST1H1E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.430dup r.(?) p.(Ala144GlyfsTer52) Unknown - pathogenic (dominant) g.26157048dup g.26156820dup 430dupG - HIST1H1E_000004 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? COG0405 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. - c.430dup r.(?) p.(Ala144GlyfsTer52) Unknown - pathogenic (dominant) g.26157048dup g.26156820dup 430dupG - HIST1H1E_000004 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? COG1832 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.431C>T r.(?) p.(Ala144Val) Unknown - likely benign g.26157049C>T - HIST1H1E(NM_005321.2):c.431C>T (p.(Ala144Val)) - HIST1H1E_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.436dup r.(?) p.(Thr146AsnfsTer50) Unknown - likely pathogenic g.26157054dup g.26156826dup - - HIST1H1E_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.436_458del r.(?) p.(Thr146AspfsTer42) Unknown - pathogenic (dominant) g.26157054_26157076del g.26156826_26156848del 436_458del23 - HIST1H1E_000019 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? COG1739 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.437C>T r.(?) p.(Thr146Ile) Unknown - likely benign g.26157055C>T g.26156827C>T HIST1H1E(NM_005321.2):c.437C>T (p.(Thr146Ile)) - HIST1H1E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.441dup r.(?) p.(Lys148GlnfsTer48) Unknown - VUS g.26157059dup g.26156831dup H1-4(NM_005321.3):c.441dupC (p.K148Qfs*48), HIST1H1E(NM_005321.2):c.436_437insC - HIST1H1E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441dup r.(?) p.(Lys148GlnfsTer48) Unknown - pathogenic g.26157059dup g.26156831dup H1-4(NM_005321.3):c.441dupC (p.K148Qfs*48), HIST1H1E(NM_005321.2):c.436_437insC - HIST1H1E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.441dup r.(?) p.(Lys148GlnfsTer48) Unknown - pathogenic (dominant) g.26157059dup g.26156831dup 441dupC - HIST1H1E_000001 - PubMed: Tatton-Brown 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? COG0412 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
+/. - c.441dup r.(?) p.(Lys148GlnfsTer48) Unknown - pathogenic (dominant) g.26157059dup g.26156831dup 441dupC - HIST1H1E_000001 - PubMed: Tatton-Brown 2017 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - - ? COG0552 PubMed: Tatton-Brown 2017 patient - - United States - - - - - 1 Johan den Dunnen
-?/. - c.455A>G r.(?) p.(Lys152Arg) Unknown - likely benign g.26157073A>G g.26156845A>G HIST1H1E(NM_005321.2):c.455A>G (p.(Lys152Arg)) - HIST1H1E_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.596C>G r.(?) p.(Ala199Gly) Unknown - VUS g.26157214C>G - H1-4(NM_005321.3):c.596C>G (p.A199G) - HIST1H1E_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.602C>T r.(?) p.(Pro201Leu) Unknown - VUS g.26157220C>T - H1-4(NM_005321.3):c.602C>T (p.P201L) - HIST1H1E_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.653A>G r.(?) p.(Lys218Arg) Unknown - likely benign g.26157271A>G - HIST1H1E(NM_005321.2):c.653A>G (p.(Lys218Arg)) - HIST1H1E_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.