Full data view for gene H3F3B

Information The variants shown are described using the NM_005324.3 transcript reference sequence.

29 entries on 1 page. Showing entries 1 - 29.
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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.-10-9C>T r.(=) p.(=) Unknown - likely benign g.73775274G>A - H3F3B(NM_005324.5):c.-10-9C>T - H3F3B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10G>A r.(?) p.(=) Unknown - VUS g.73775265C>T - H3F3B(NM_005324.5):c.-10G>A - H3F3B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-10G>T r.(?) p.(=) Unknown - VUS g.73775265C>A - H3-3B(NM_005324.5):c.-10G>T - H3F3B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.11C>T r.(?) p.(Thr4Ile) Unknown ACMG likely pathogenic g.73775245G>A g.75779164G>A - - H3F3B_000005 - - ClinVar-3374710 - De novo - - - - - DNA SEQ-NG-I peripheral blood WES ID - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.23C>T r.(?) p.(Ala8Val) Unknown - pathogenic (dominant) g.73775233G>A g.75779152G>A - - H3F3B_000024 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat5 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.25C>T r.(?) p.(Arg9Cys) Unknown - pathogenic (dominant) g.73775231G>A g.75779150G>A - - H3F3B_000023 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat34 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.25C>T r.(?) p.(Arg9Cys) Unknown - pathogenic (dominant) g.73775231G>A g.75779150G>A - - H3F3B_000023 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat6 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.28A>G r.(?) p.(Lys10Glu) Unknown - pathogenic (dominant) g.73775228T>C g.75779147T>C - - H3F3B_000022 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat7 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
+/. - c.31T>C r.(?) p.(Ser11Pro) Unknown - pathogenic (dominant) g.73775225A>G g.75779144A>G - - H3F3B_000021 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat35 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.40G>A r.(?) p.(Gly14Arg) Unknown - pathogenic (dominant) g.73775216C>T g.75779135C>T - - H3F3B_000020 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat36 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+?/. - c.46G>C r.(?) p.(Ala16Pro) Unknown - likely pathogenic g.73775210C>G - - - H3F3B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.52C>T r.(?) p.(Arg18Cys) Unknown - likely pathogenic g.73775204G>A - - - H3F3B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.68C>A r.(?) p.(Thr23Lys) Unknown - pathogenic (dominant) g.73775188G>T g.75779107G>T - - H3F3B_000019 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat8 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.88G>C r.(?) p.(Ala30Pro) Unknown - pathogenic (dominant) g.73775168C>G g.75779087C>G - - H3F3B_000018 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat37 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.104G>T r.(?) p.(Gly35Val) Unknown - pathogenic (dominant) g.73775152C>A g.75779071C>A - - H3F3B_000017 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat38 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+/. - c.119A>G r.(?) p.(His40Arg) Unknown - pathogenic (dominant) g.73775137T>C g.75779056T>C - - H3F3B_000016 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat39 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.146T>G r.(?) p.(Leu49Arg) Unknown - pathogenic (dominant) g.73775027A>C g.75778946A>C - - H3F3B_000015 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat40 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.155T>A r.(?) p.(Ile52Asn) Unknown - pathogenic (dominant) g.73775018A>T g.75778937A>T - - H3F3B_000014 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat9 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - 1 Johan den Dunnen
-?/. - c.283-9C>T r.(=) p.(=) Unknown - likely benign g.73774813G>A - H3F3B(NM_005324.5):c.283-9C>T - H3F3B_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.326A>G r.(?) p.(Asn109Ser) Unknown - pathogenic (dominant) g.73774761T>C g.75778680T>C - - H3F3B_000013 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat41 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. - c.354C>A r.spl? p.(Val118=) Unknown - likely pathogenic (dominant) g.73774733G>T g.75778652G>T 440C>A (S146X), V117V - H3F3B_000009 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat46 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.361A>G r.(?) p.(Met121Val) Unknown - pathogenic (dominant) g.73774726T>C g.75778645T>C - - H3F3B_000012 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat42 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.365C>G r.(?) p.(Pro122Arg) Unknown - pathogenic (dominant) g.73774722G>C g.75778641G>C - - H3F3B_000001 - PubMed: Gostain 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - ? CMC09 PubMed: Gostain 2020 - M - Canada - - - - - 1 Johan den Dunnen
+/. - c.365C>G r.(?) p.(Pro122Arg) Unknown - pathogenic (dominant) g.73774722G>C g.75778641G>C - - H3F3B_000001 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat43 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.365C>G r.(?) p.(Pro122Arg) Unknown - pathogenic (dominant) g.73774722G>C g.75778641G>C - - H3F3B_000001 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat44 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents M - - - - - - - 1 Johan den Dunnen
+/. - c.365C>T r.(?) p.(Pro122Leu) Unknown - pathogenic g.73774722G>A - H3F3B(NM_005324.5):c.365C>T (p.(Pro122Leu)) - H3F3B_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.377A>G r.(?) p.(Gln126Arg) Unknown - pathogenic (dominant) g.73774710T>C g.75778629T>C - - H3F3B_000011 - PubMed: Bryant 2020 - - De novo - - - - - DNA SEQ, SEQ-NG - - NDD Pat45 PubMed: Bryant 2020 2-generation family, 1 affected, unaffected non carrier parents F - - - - - - - 1 Johan den Dunnen
?/. - c.389G>A r.(?) p.(Arg130Gln) Unknown - VUS g.73774698C>T - H3-3B(NM_005324.5):c.389G>A (p.R130Q) - H3F3B_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.410_411del r.(?) p.(Ter137CysextTer9) Unknown - pathogenic (dominant) g.73774676_73774677del g.75778595_75778596del - - H3F3B_000010 - PubMed: Okur 2021 - - De novo - - - - - DNA SEQ, SEQ-NG - WES NDD Pat10 PubMed: Okur 2021 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - 1 Johan den Dunnen
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