Full data view for gene HIST1H4C

Information The variants shown are described using the NM_003542.3 transcript reference sequence.

23 entries on 1 page. Showing entries 1 - 23.
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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.13G>A r.(?) p.(Gly5Ser) Unknown - VUS g.26104188G>A - H4C3(NM_003542.4):c.13G>A (p.G5S) - HIST1H1T_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.97C>G r.(?) p.(Pro33Ala) Unknown - pathogenic (dominant) g.26104272C>G g.26104044C>G - - HIST1H4C_000006 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.98C>T r.(?) p.(Pro33Leu) Unknown - likely pathogenic g.26104273C>T g.26104045C>T H4C3(NM_003542.4):c.98C>T (p.P33L) - HIST1H4C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.98C>T r.(?) p.(Pro33Leu) Unknown - pathogenic (dominant) g.26104273C>T g.26104045C>T - - HIST1H4C_000001 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Netherlands - - - - - 1 Johan den Dunnen
+/. - c.98C>T r.(?) p.(Pro33Leu) Unknown - pathogenic (dominant) g.26104273C>T g.26104045C>T - - HIST1H4C_000001 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Tessadori 2022, Journal: Tessadori 2022 - F - United States Jew-Ashkenazi - - - - 1 Johan den Dunnen
?/. - c.167G>A r.(?) p.(Arg56Gln) Unknown - VUS g.26104342G>A - - - HIST1H1T_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>A r.(?) p.(Arg56Gln) Unknown - VUS g.26104342G>A - - - HIST1H1T_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.268G>T r.(?) p.(Ala90Ser) Unknown - likely benign g.26104443G>T - HIST1H4C(NM_003542.4):c.268G>T (p.(Ala90Ser)) - HIST1H1T_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.271C>T r.(=) p.(=) Unknown - benign g.26104446C>T g.26104218C>T - - HIST1H4C_000005 - PubMed: Tessadori 2017 - rs61735681 Germline - - - - - DNA SEQ, SEQ-NG - - ? 28920961-Pat1 PubMed: Tessadori 2017 2-generation family, 1 affected F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.273A>G r.(=) p.(=) Maternal (confirmed) - benign g.26104448A>G g.26104220A>G - - HIST1H4C_000004 - PubMed: Tessadori 2017 - rs198852 Germline - - - - - DNA SEQ, SEQ-NG - - ? 28920961-FamPat2 PubMed: Tessadori 2017 2-generation family, affected sisters F no Netherlands - - - - - 2 Johan den Dunnen
-/. - c.273A>G r.(=) p.(=) Maternal (confirmed) - benign g.26104448A>G g.26104220A>G - - HIST1H4C_000004 - PubMed: Tessadori 2017 - rs198852 Germline - - - - - DNA SEQ - - ? 28920961-FamPat3 PubMed: Tessadori 2017 Pat3 F no Netherlands - 00y00m11d - - - 1 Johan den Dunnen
+/. - c.274A>C r.(?) p.(Lys92Gln) Unknown - pathogenic (dominant) g.26104449A>C g.26104221A>C Lys91Gln - HIST1H4C_000002 - PubMed: Tessadori 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? 28920961-Pat1 PubMed: Tessadori 2017 2-generation family, 1 affected F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.274A>C r.(?) p.(Lys92Gln) Unknown - pathogenic (dominant) g.26104449A>C g.26104221A>C - - HIST1H4C_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Thailand Europe-N - - - - 1 Johan den Dunnen
+/. - c.274A>C r.(?) p.(Lys92Gln) Unknown - pathogenic (dominant) g.26104449A>C g.26104221A>C - - HIST1H4C_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - Germany Europe-M - - - - 1 Johan den Dunnen
+/. - c.274A>C r.(?) p.(Lys92Gln) Unknown - pathogenic (dominant) g.26104449A>C g.26104221A>C - - HIST1H4C_000002 - PubMed: Tessadori 2022, Journal: Tessadori 2022 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Tessadori 2022, Journal: Tessadori 2022 - M - United States Hispanic - - - - 1 Johan den Dunnen
+/. - c.275A>G r.(?) p.(Lys92Arg) Paternal (confirmed) - pathogenic (dominant) g.26104450A>G g.26104222A>G Lys91Arg - HIST1H4C_000003 father somatic mosaic PubMed: Tessadori 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - - ? 28920961-FamPat2 PubMed: Tessadori 2017 2-generation family, affected sisters F no Netherlands - - - - - 2 Johan den Dunnen
+/. - c.275A>G r.(?) p.(Lys92Arg) Paternal (confirmed) - pathogenic (dominant) g.26104450A>G g.26104222A>G - - HIST1H4C_000003 - PubMed: Tessadori 2017 - - Germline yes - - - - DNA SEQ - - ? 28920961-FamPat3 PubMed: Tessadori 2017 Pat3 F no Netherlands - 00y00m11d - - - 1 Johan den Dunnen
?/. - c.281_282del r.(?) p.(Gln94Argfs*?) Unknown - VUS g.26104456_26104457del - H4C3(NM_003542.4):c.281_282delAG (p.Q94Rfs*?) - HIST1H1T_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.302dup r.(?) p.(Gly102Argfs*?) Unknown - VUS g.26104477dup - HIST1H4C(NM_003542.3):c.302dupT (p.(Gly102fs)) - HIST1H1T_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3336C>A r.(=) p.(=) Unknown - VUS g.26107823C>A - HIST1H1T(NM_005323.3):c.499G>T (p.(Gly167Trp)) - HIST1H1T_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3373C>T r.(=) p.(=) Unknown - likely benign g.26107860C>T - HIST1H1T(NM_005323.3):c.462G>A (p.K154=) - HIST1H1T_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3492C>T r.(=) p.(=) Unknown - likely benign g.26107979C>T - HIST1H1T(NM_005323.3):c.343G>A (p.V115M) - HIST1H1T_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3812G>A r.(=) p.(=) Unknown - likely benign g.26108299G>A - HIST1H1T(NM_005323.3):c.23C>T (p.(Ala8Val)) - HIST1H1T_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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