Full data view for gene TOP3A

Information The variants shown are described using the NM_004618.3 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.35G>A r.(?) p.(Trp12*) Unknown - pathogenic g.18218058C>T - - - SHMT1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Ala50Val) Unknown - VUS g.18217944G>A - TOP3A(NM_004618.5):c.149C>T (p.(Ala50Val)) - SHMT1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.298A>G r.(?) p.(Met100Val) Parent #1 - pathogenic (recessive) g.18211681T>C g.18308367T>C - - TOP3A_000012 - PubMed: Nicholls 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? PatMC1 PubMed: Nicholls 2018 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.403C>T r.(?) p.(Arg135Ter) Parent #2 - pathogenic (recessive) g.18208522G>A g.18305208G>A - - TOP3A_000011 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? PatMC1 PubMed: Nicholls 2018 - F - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-?/. - c.499+3A>G r.(?) p.(?) Unknown - likely benign g.18208423T>C - - - TOP3A_000013 - - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.527C>T r.(?) p.(Ala176Val) Parent #1 - pathogenic (recessive) g.18206010G>A g.18302696G>A - - TOP3A_000010 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam3Pat5 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - 1 Johan den Dunnen
+?/. - c.722dup r.(?) p.(Tyr241Ter) Unknown - likely pathogenic g.18205670dup g.18302356dup TOP3A(NM_004618.5):c.722dupA (p.Y241*) - TOP3A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.919C>T r.(?) p.(Pro307Ser) Unknown - VUS g.18202944G>A - TOP3A(NM_004618.5):c.919C>T (p.(Pro307Ser)) - TOP3A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1073_1073+1dup r.spl p.? Parent #2 - pathogenic (recessive) g.18198017_18198018dup g.18294703_18294704dup 1072_1073dup - TOP3A_000006 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline yes - - - - DNA SEQ, SEQ-NG - - BLM Fam3Pat5 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Japan - - - - - 1 Johan den Dunnen
+/. - c.1090C>T r.(?) p.(Arg364Ter) Unknown - pathogenic g.18196150G>A - TOP3A(NM_001320759.1):c.805C>T (p.R269*) - TOP3A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1877+1G>C r.spl? p.? Unknown - likely pathogenic g.18188455C>G - TOP3A(NM_004618.5):c.1877+1G>C - TOP3A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2022-8G>A r.(=) p.(=) Unknown - likely benign g.18183980C>T - TOP3A(NM_004618.5):c.2022-8G>A - TOP3A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2149A>C r.(?) p.(Lys717Gln) Unknown - VUS g.18181667T>G - TOP3A(NM_004618.5):c.2149A>C (p.(Lys717Gln)) - TOP3A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2271dup r.(?) p.(Arg758GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.18181551dup g.18278237dup - - TOP3A_000007 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam2Pat2 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 3 affected, unaffected heterozygous parents F - United Arab Emirates - - - - - 3 Johan den Dunnen
+/. - c.2271dup r.(?) p.(Arg758GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.18181551dup g.18278237dup - - TOP3A_000007 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam2Pat3 PubMed: Martin 2018, Journal: Martin 2018 sib F - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.2271dup r.(?) p.(Arg758GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.18181551dup g.18278237dup - - TOP3A_000007 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam2Pat4 PubMed: Martin 2018, Journal: Martin 2018 sib M - United Arab Emirates - - - - - 1 Johan den Dunnen
+/. - c.2271dup r.(?) p.(Arg758GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.18181551dup g.18278237dup - - TOP3A_000007 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam4Pat6 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Syria - - - - - 1 Johan den Dunnen
+/. - c.2271dup r.(?) p.(Arg758GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.18181551dup g.18278237dup 2771dup - TOP3A_000007 - PubMed: Martin 2018, Journal: Martin 2018, Journal: Martin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam6Pat9 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents M - Syria - - - - - 1 Johan den Dunnen
+/. - c.2271dup r.(?) p.(Arg758GlnfsTer3) Both (homozygous) - pathogenic (recessive) g.18181551dup g.18278237dup 2771dup - TOP3A_000007 - PubMed: Martin 2018, Journal: Martin 2018, Journal: Martin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam7Pat10 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - Saudi Arabia - - - - - 1 Johan den Dunnen
+/. - c.2428del r.(?) p.(Ser810LeufsTer2) Both (homozygous) - pathogenic (recessive) g.18181389del g.18278075del - - TOP3A_000009 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam5Pat7 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 2 affected, unaffected heterozygous parents F - Spain - - - - - 2 Johan den Dunnen
+/. - c.2428del r.(?) p.(Ser810LeufsTer2) Both (homozygous) - pathogenic (recessive) g.18181389del g.18278075del - - TOP3A_000009 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam5Pat8 PubMed: Martin 2018, Journal: Martin 2018 sib M - Spain - - - - - 1 Johan den Dunnen
+/. - c.2718del r.(?) p.(Thr907LeufsTer101) Both (homozygous) - pathogenic (recessive) g.18181099del g.18277785del - - TOP3A_000008 - PubMed: Martin 2018, Journal: Martin 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - - BLM Fam1Pat1 PubMed: Martin 2018, Journal: Martin 2018 2-generation family, 1 affected, unaffected heterozygous parents F - United States Czech;Ireland - - - - 1 Johan den Dunnen
?/. - c.2757C>G r.(?) p.(Phe919Leu) Unknown - VUS g.18181059G>C - TOP3A(NM_004618.5):c.2757C>G (p.(Phe919Leu)) - TOP3A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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