Unique variants in gene TDP1

Information The variants shown are described using the NM_018319.3 transcript reference sequence.

28 entries on 1 page. Showing entries 1 - 28.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-230-14C>A benign r.(=) p.(=) g.90422908C>A - TDP1(NM_018319.3):c.-230-14C>A (p.?) - TDP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.-224A>G likely benign r.(?) p.(=) g.90422928A>G - TDP1(NM_018319.3):c.-224A>G (p.?) - TDP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.-21C>T benign r.(?) p.(=) g.90423131C>T - TDP1(NM_018319.3):c.-21C>T (p.?) - TDP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.19T>G VUS r.(?) p.(Tyr7Asp) g.90429477T>G - TDP1(NM_018319.3):c.19T>G (p.Y7D) - chr14_004192 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.236G>C likely benign r.(?) p.(Ser79Thr) g.90429694G>C - TDP1(NM_018319.3):c.236G>C (p.S79T) - TDP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.285G>T benign r.(?) p.(Glu95Asp) g.90429743G>T - TDP1(NM_018319.3):c.285G>T (p.E95D) - TDP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 3 - c.291A>G benign r.(?) p.(=) g.90429749A>G - TDP1(NM_018319.3):c.291A>G (p.=) - TDP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.302C>T benign r.(?) p.(Pro101Leu) g.90429760C>T - TDP1(NM_018319.3):c.302C>T (p.P101L) - TDP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.400G>A benign r.(?) p.(Ala134Thr) g.90429858G>A - TDP1(NM_018319.3):c.400G>A (p.A134T) - TDP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.537C>T benign r.(?) p.(=) g.90429995C>T - TDP1(NM_018319.3):c.537C>T (p.N179=) - TDP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.716A>G likely benign r.(?) p.(His239Arg) g.90437575A>G - TDP1(NM_001008744.1):c.716A>G (p.(His239Arg)) - chr14_004193 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.774G>A likely benign r.(?) p.(=) g.90442142G>A - TDP1(NM_018319.3):c.774G>A (p.=) - chr14_004194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.904T>C VUS r.(?) p.(Tyr302His) g.90450879T>C - TDP1(NM_018319.3):c.904T>C (p.Y302H) - TDP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.911G>A benign r.(?) p.(Arg304Gln) g.90450886G>A - TDP1(NM_018319.3):c.911G>A (p.R304Q) - TDP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.931A>G likely benign r.(?) p.(Lys311Glu) g.90450906A>G - TDP1(NM_018319.3):c.931A>G (p.K311E) - TDP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 2 - c.1077A>G benign r.(?) p.(=) g.90451500A>G - TDP1(NM_018319.3):c.1077A>G (p.=) - TDP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.1098A>G benign r.(?) p.(=) g.90451521A>G - TDP1(NM_018319.3):c.1098A>G (p.Q366=) - TDP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1122A>G likely benign r.(?) p.(=) g.90451545A>G - TDP1(NM_018319.3):c.1122A>G (p.=) - TDP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1165G>A likely benign r.(?) p.(Ala389Thr) g.90455282G>A - TDP1(NM_018319.3):c.1165G>A (p.A389T) - chr14_004195 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1317+11G>A benign r.(=) p.(=) g.90455445G>A - TDP1(NM_018319.3):c.1317+11G>A - TDP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 2 - c.1317+20G>A likely benign r.(=) p.(=) g.90455454G>A - TDP1(NM_018319.3):c.1317+20G>A - TDP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.1317+26G>A benign r.(=) p.(=) g.90455460G>A - TDP1(NM_018319.3):c.1317+26G>A - TDP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1343G>A VUS r.(?) p.(Arg448Gln) g.90456086G>A - TDP1(NM_018319.3):c.1343G>A (p.R448Q) - chr14_004196 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1433+9T>C benign r.(=) p.(=) g.90458336T>C - TDP1(NM_018319.3):c.1433+9T>C - TDP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1433+15T>G likely benign r.(=) p.(=) g.90458342T>G - TDP1(NM_018319.3):c.1433+15T>G - TDP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1632C>T likely benign r.(?) p.(=) g.90485750C>T - TDP1(NM_018319.3):c.1632C>T (p.=) - TDP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1705A>G benign r.(?) p.(Thr569Ala) g.90499510A>G - TDP1(NM_018319.3):c.1705A>G (p.T569A) - TDP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1800G>A likely benign r.(?) p.(=) g.90509460G>A - TDP1(NM_001330205.1):c.1691G>A (p.R564H) - chr14_004197 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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