Full data view for gene H3F3A

Information The variants shown are described using the NM_002107.4 transcript reference sequence.

52 entries on 1 page. Showing entries 1 - 52.
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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.-23-7C>T r.(=) p.(=) Unknown - likely benign g.226252023C>T - H3F3A(NM_002107.7):c.-23-7C>T - H3F3A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25C>A r.(?) p.(Arg9Ser) Unknown - pathogenic (dominant) g.226252077C>A g.226064376C>A - - H3F3A_000011 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat1 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.25C>G r.(?) p.(Arg9Gly) Unknown - pathogenic (dominant) g.226252077C>G g.226064376C>G - - H3F3A_000012 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat2 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.47C>G r.(?) p.(Ala16Gly) Unknown - pathogenic (dominant) g.226252099C>G g.226064398C>G - - H3F3A_000013 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat3 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.52A>G r.(?) p.(Arg18Gly) Unknown - pathogenic (dominant) g.226252104A>G g.226064403A>G - - H3F3A_000014 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat4 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.52A>G r.(?) p.(Arg18Gly) Unknown - pathogenic (dominant) g.226252104A>G g.226064403A>G - - H3F3A_000014 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat5 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.68C>T r.(?) p.(Thr23Ile) Unknown - pathogenic (dominant) g.226252120C>T g.226064419C>T - - H3F3A_000015 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat6 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 2 c.83A>T r.(?) p.(Lys28Met) Unknown - likely pathogenic g.226252135A>T g.226064434A>T AAG.ATG (K27M) - H3F3A_000001 - PubMed: Gielen 2013 - - Somatic - 35/129 cases - - - DNA SEQ - - GLM - PubMed: Gielen 2013 129 glial tumor cases F;M - Germany - - - - - 35 Johan den Dunnen
+?/. 2 c.83A>T r.(?) p.(Lys28Met) Unknown - likely pathogenic g.226252135A>T g.226064434A>T AAG>ATG (K27M) - H3F3A_000001 - PubMed: Gielen 2013 - - Somatic - 5/28 cases - - - DNA SEQ - - GLM - PubMed: Gielen 2013 28 glial tumor cases F;M - Germany - - - - - 5 Johan den Dunnen
+/. - c.88G>A r.(?) p.(Ala30Thr) Unknown - pathogenic (dominant) g.226252140G>A g.226064439G>A - - H3F3A_000016 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat7 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.95C>T r.(?) p.(Ser32Phe) Unknown - VUS g.226252147C>T g.226064446C>T H3F3A(NM_002107.5):c.95C>T (p.S32F) - H3F3A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.95C>T r.(?) p.(Ser32Phe) Unknown - pathogenic (dominant) g.226252147C>T g.226064446C>T - - H3F3A_000006 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat8 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. 2 c.103G>C r.(?) p.(Gly35Arg) Unknown - likely pathogenic g.226252155G>C g.226064454G>C G34R - H3F3A_000002 - PubMed: Gielen 2013 - - Somatic - 7/129 cases - - - DNA SBE - - GLM - PubMed: Gielen 2013 glial tumor cases - - Germany - - - - - 7 Johan den Dunnen
+?/. 2 c.103G>C r.(?) p.(Gly35Arg) Unknown - likely pathogenic g.226252155G>C g.226064454G>C G34R - H3F3A_000002 - PubMed: Gielen 2013 - - Somatic - 1/6 cases - - - DNA SEQ - - GLM - PubMed: Gielen 2013 glial tumor cases - - Germany - - - - - 1 Johan den Dunnen
+/. - c.109A>G r.(?) p.(Lys37Glu) Unknown - pathogenic (dominant) g.226252161A>G g.226064460A>G - - H3F3A_000017 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat9 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.118C>T r.(?) p.(His40Tyr) Unknown - pathogenic (dominant) g.226252170C>T g.226064469C>T - - H3F3A_000018 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat10 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.121C>T r.(?) p.(Arg41Cys) Unknown - pathogenic (dominant) g.226252173C>T g.226064472C>T - - H3F3A_000019 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat11 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - 1 Johan den Dunnen
?/. - c.137C>T r.(?) p.(Thr46Ile) Unknown - VUS g.226253365C>T g.226065664C>T - - H3F3A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.137C>T r.(?) p.(Thr46Ile) Unknown - pathogenic (dominant) g.226253365C>T g.226065664C>T - - H3F3A_000005 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat11 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.137C>T r.(?) p.(Thr46Ile) Unknown - pathogenic (dominant) g.226253365C>T g.226065664C>T - - H3F3A_000005 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat12 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.137C>T r.(?) p.(Thr46Ile) Unknown - pathogenic (dominant) g.226253365C>T g.226065664C>T - - H3F3A_000005 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat13 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.137C>T r.(?) p.(Thr46Ile) Unknown - pathogenic (dominant) g.226253365C>T g.226065664C>T - - H3F3A_000005 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat14 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.166C>A r.(?) p.(Gln56Lys) Unknown - pathogenic (dominant) g.226253394C>A g.226065693C>A - - H3F3A_000020 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat1 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.185T>G r.(?) p.(Leu62Arg) Unknown - pathogenic (dominant) g.226253413T>G g.226065712T>G - - H3F3A_000021 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat15 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.232G>A r.(?) p.(Asp78Asn) Unknown - pathogenic (dominant) g.226253460G>A g.226065759G>A - - H3F3A_000022 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat16 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.244G>C r.(?) p.(Asp82His) Unknown - pathogenic (dominant) g.226253472G>C g.226065771G>C - - H3F3A_000023 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat17 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.250C>T r.(?) p.(Arg84Cys) Unknown - pathogenic (dominant) g.226253478C>T g.226065777C>T - - H3F3A_000024 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat18 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.250C>T r.(?) p.(Arg84Cys) Unknown - pathogenic (dominant) g.226253478C>T g.226065777C>T - - H3F3A_000024 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat19 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
?/. - c.271G>C r.(?) p.(Gly91Arg) Unknown - VUS g.226253499G>C g.226065798G>C H3F3A(NM_002107.5):c.271G>C (p.G91R) - H3F3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.271G>C r.(?) p.(Gly91Arg) Unknown - pathogenic (dominant) g.226253499G>C g.226065798G>C - - H3F3A_000003 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat20 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.271G>C r.(?) p.(Gly91Arg) Unknown - pathogenic (dominant) g.226253499G>C g.226065798G>C - - H3F3A_000003 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat2 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
?/. - c.326A>G r.(?) p.(Asn109Ser) Unknown - VUS g.226259095A>G g.226071394A>G H3F3A(NM_002107.5):c.326A>G (p.N109S) - H3F3A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.326A>G r.(?) p.(Asn109Ser) Unknown ACMG pathogenic (dominant) g.226259095A>G g.226071394A>G - - H3F3A_000007 ACMG: PS2_VSTR, PM2_SUP, PP2, confirmed de novo; PMID 33268356 - - - De novo - - - - - DNA SEQ-NG-I Blood - BRYLIB 331975 - - M ? Syria - - - - - 1 Andreas Laner
+/. - c.326A>G r.(?) p.(Asn109Ser) Unknown - pathogenic (dominant) g.226259095A>G g.226071394A>G - - H3F3A_000007 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat21 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.337A>C r.(?) p.(Ile113Leu) Unknown - pathogenic (dominant) g.226259106A>C g.226071405A>C - - H3F3A_000025 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat22 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.337A>G r.(?) p.(Ile113Val) Unknown - pathogenic (dominant) g.226259106A>G g.226071405A>G - - H3F3A_000026 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat23 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.352G>C r.(?) p.(Val118Leu) Unknown ACMG pathogenic g.226259121G>C g.226071420G>C - - H3F3A_000008 ACMG PP2, PS2, PM2, PP3, PM1; exon not covered by WES PubMed: Riquin 2023 - - De novo - - - - - DNA SEQ-NG - WES, WGS trio NDD Pat4 PubMed: Riquin 2023 patient M - France - - - - - 1 Johan den Dunnen
+/. - c.352G>C r.(?) p.(Val118Leu) Unknown - pathogenic (dominant) g.226259121G>C g.226071420G>C - - H3F3A_000008 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat24 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.362T>A r.(?) p.(Met121Lys) Unknown - pathogenic (dominant) g.226259131T>A g.226071430T>A - - H3F3A_000027 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat26 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.363G>A r.(?) p.(Met121Ile) Unknown - pathogenic (dominant) g.226259132G>A g.226071431G>A - - H3F3A_000028 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat25 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.363G>A r.(?) p.(Met121Ile) Unknown - pathogenic (dominant) g.226259132G>A g.226071431G>A - - H3F3A_000028 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat12 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents - - United States - - - - - 1 Johan den Dunnen
+/. - c.365C>G r.(?) p.(Pro122Arg) Unknown - pathogenic (dominant) g.226259134C>G g.226071433C>G - - H3F3A_000030 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat28 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.365C>T r.(?) p.(Pro122Leu) Unknown - pathogenic (dominant) g.226259134C>T g.226071433C>T - - H3F3A_000029 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat27 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.365C>T r.(?) p.(Pro122Leu) Unknown - pathogenic (dominant) g.226259134C>T g.226071433C>T - - H3F3A_000029 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat3 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown ACMG pathogenic g.226259146A>G g.226071445A>G - - H3F3A_000009 ACMG PS2, PM1, PM2, PP2, PP3; exon not covered by WES PubMed: Riquin 2023 - - De novo - - - - - DNA SEQ-NG - WES, WGS trio NDD Pat6 PubMed: Riquin 2023 patient F - France - - - - - 1 Johan den Dunnen
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic (dominant) g.226259146A>G g.226071445A>G - - H3F3A_000009 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat29 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic (dominant) g.226259146A>G g.226071445A>G - - H3F3A_000009 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat30 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic (dominant) g.226259146A>G g.226071445A>G - - H3F3A_000009 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat31 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic (dominant) g.226259146A>G g.226071445A>G - - H3F3A_000009 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat32 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.385C>T r.(?) p.(Arg129Cys) Unknown - pathogenic (dominant) g.226259154C>T g.226071453C>T - - H3F3A_000031 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat33 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.386G>A r.(?) p.(Arg129His) Unknown - pathogenic (dominant) g.226259155G>A g.226071454G>A - - H3F3A_000032 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat4 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
-/. - c.*49del r.(?) p.(=) Unknown - benign g.226259229del g.226071528del H3-3A(NM_002107.6):c.*49delA - H3F3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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