Unique variants in gene TDP1

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

29 entries on 1 page. Showing entries 1 - 29.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.-230-14C>A r.(=) p.(=) - benign g.90422908C>A g.89956564C>A - - TDP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.-224A>G r.(?) p.(=) - likely benign g.90422928A>G g.89956584A>G - - TDP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.-21C>T r.(?) p.(=) - benign g.90423131C>T g.89956787C>T - - TDP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.19T>G r.(?) p.(Tyr7Asp) - VUS g.90429477T>G g.89963133T>G TDP1(NM_018319.3):c.19T>G (p.Y7D) - TDP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.236G>C r.(?) p.(Ser79Thr) - likely benign g.90429694G>C g.89963350G>C TDP1(NM_018319.3):c.236G>C (p.S79T) - TDP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.285G>T r.(?) p.(Glu95Asp) - benign g.90429743G>T g.89963399G>T TDP1(NM_018319.3):c.285G>T (p.E95D) - TDP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.291A>G r.(?) p.(Gln97=) - benign g.90429749A>G g.89963405A>G TDP1(NM_018319.3):c.291A>G (p.Q97=) - TDP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 2 - c.302C>T r.(?) p.(Pro101Leu) - benign g.90429760C>T g.89963416C>T TDP1(NM_018319.3):c.302C>T (p.P101L) - TDP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 4 - c.400G>A r.(?) p.(Ala134Thr) - benign g.90429858G>A g.89963514G>A TDP1(NM_018319.3):c.400G>A (p.A134T) - TDP1_000014 128 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs28365054 Germline, CLASSIFICATION record - 128/2794 individuals, 1/2794 individuals - - - Mohammed Faruq, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.537C>T r.(?) p.(Asn179=) - benign g.90429995C>T g.89963651C>T TDP1(NM_018319.3):c.537C>T (p.N179=) - TDP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.716A>G r.(?) p.(His239Arg) - likely benign g.90437575A>G g.89971231A>G TDP1(NM_001008744.1):c.716A>G (p.(His239Arg)) - TDP1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.774G>A r.(?) p.(Ala258=) - likely benign g.90442142G>A g.89975798G>A TDP1(NM_018319.3):c.774G>A (p.A258=) - TDP1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.904T>C r.(?) p.(Tyr302His) - VUS g.90450879T>C g.89984535T>C TDP1(NM_018319.3):c.904T>C (p.Y302H) - TDP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 2 - c.911G>A r.(?) p.(Arg304Gln) - likely benign, benign g.90450886G>A g.89984542G>A TDP1(NM_018319.3):c.911G>A (p.R304Q) - TDP1_000017 4 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs34452707 Germline, CLASSIFICATION record - 4/2795 individuals - - - Mohammed Faruq, VKGL-NL_Rotterdam
-?/. 1 - c.931A>G r.(?) p.(Lys311Glu) - likely benign g.90450906A>G g.89984562A>G TDP1(NM_018319.3):c.931A>G (p.K311E) - TDP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.979T>C r.(?) p.(Leu327=) - likely benign g.90450954T>C g.89984610T>C TDP1(NM_018319.3):c.979T>C (p.L327=) - TDP1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., -/. 4 - c.1077A>G r.(=), r.(?) p.(=), p.(Pro359=) - likely benign, benign g.90451500A>G g.89985156A>G TDP1(NM_018319.3):c.1077A>G (p.P359=) - TDP1_000004 127 heterozygous; Clinindb (India), 1 homozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs17126522 Germline, CLASSIFICATION record - 127/2795 individuals, 1/2795 individuals - - - Mohammed Faruq, VKGL-NL_AMC, VKGL-NL_Rotterdam
-/. 1 - c.1098A>G r.(?) p.(Gln366=) - benign g.90451521A>G g.89985177A>G TDP1(NM_018319.3):c.1098A>G (p.Q366=) - TDP1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1122A>G r.(?) p.(Arg374=) - likely benign g.90451545A>G g.89985201A>G TDP1(NM_018319.3):c.1122A>G (p.R374=) - TDP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1165G>A r.(?) p.(Ala389Thr) - likely benign g.90455282G>A g.89988938G>A TDP1(NM_018319.3):c.1165G>A (p.A389T) - TDP1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1317+11G>A r.(=) p.(=) - benign g.90455445G>A g.89989101G>A TDP1(NM_018319.3):c.1317+11G>A - TDP1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.1317+20G>A r.(=) p.(=) - likely benign g.90455454G>A g.89989110G>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 r.(=) p.(=) - benign g.90455460G>A g.89989116G>A TDP1(NM_018319.3):c.1317+26G>A - TDP1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1343G>A r.(?) p.(Arg448Gln) - VUS g.90456086G>A g.89989742G>A TDP1(NM_018319.3):c.1343G>A (p.R448Q) - TDP1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1433+9T>C r.(=) p.(=) - benign g.90458336T>C g.89991992T>C TDP1(NM_018319.3):c.1433+9T>C - TDP1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1433+15T>G r.(=) p.(=) - likely benign g.90458342T>G g.89991998T>G TDP1(NM_018319.3):c.1433+15T>G - TDP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1632C>T r.(?) p.(Leu544=) - likely benign g.90485750C>T g.90019406C>T TDP1(NM_018319.3):c.1632C>T (p.L544=) - TDP1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.1705A>G r.(?) p.(Thr569Ala) - benign g.90499510A>G g.90033166A>G TDP1(NM_018319.3):c.1705A>G (p.T569A) - TDP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1800G>A r.(?) p.(Thr600=) - likely benign g.90509460G>A g.90043116G>A TDP1(NM_001330205.1):c.1691G>A (p.R564H) - TDP1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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