Full data view for gene THAP1

Information The variants shown are described using the NM_018105.2 transcript reference sequence.

111 entries on 2 pages. Showing entries 1 - 100.
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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     
?/. 1 c.-237_-236delinsTT r.(?) p.(?) Unknown - VUS g.42698473_42698474delinsAA g.42843330_42843331delinsAA -236_235GA>TT - THAP1_000025 - PubMed: Djarmati 2009 - - Germline - 20/320 patients - - - DNA SEQ - - DYT patients PubMed: Djarmati 2009 - - - Germany - - - - - 20 Johan den Dunnen
?/. 1 c.-237_-236delinsTT r.(?) p.(?) Unknown - VUS g.42698473_42698474delinsAA g.42843330_42843331delinsAA -236_235GA>TT - THAP1_000025 - PubMed: Djarmati 2009 - - Germline - 7/355 controls - - - DNA SEQ - - Healthy/Control controls PubMed: Djarmati 2009 - - - Germany - - - - - 7 Johan den Dunnen
-?/. 1 c.-237_-236delinsTT r.(?) p.(?) Unknown - likely benign g.42698473_42698474delinsAA g.42843330_42843331delinsAA - - THAP1_000025 - PubMed: Lohmann 2012 - - Germline - 17/378 patients - - - DNA SEQ - - DYT patients PubMed: Lohmann 2012 - - - Germany - - - - - 17 Johan den Dunnen
-?/. 1 c.-237_-236delinsTT r.(?) p.(?) Unknown - likely benign g.42698473_42698474delinsAA g.42843330_42843331delinsAA - - THAP1_000025 - PubMed: Lohmann 2012 - - Germline - 6/120 patients - - - DNA SEQ - - DYT patients PubMed: Lohmann 2012 - - - Serbia - - - - - 6 Johan den Dunnen
-?/. 1 c.-237_-236delinsTT r.(?) p.(?) Unknown - likely benign g.42698473_42698474delinsAA g.42843330_42843331delinsAA - - THAP1_000025 - PubMed: Lohmann 2012 - - Germline - 19/365 controls - - - DNA SEQ - - Healthy/Control controls PubMed: Lohmann 2012 - - - - - - - - - 19 Johan den Dunnen
?/. - c.-42C>T r.(?) p.(?) Unknown - VUS g.42698279G>A g.42843136G>A - - THAP1_000056 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT patient PubMed: Xiao 2010 - F - United States white - - - - 1 Johan den Dunnen
?/. - c.-42C>T r.(?) p.(?) Unknown - VUS g.42698279G>A g.42843136G>A - - THAP1_000056 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT patient PubMed: Xiao 2010 - F - United States white - - - - 1 Johan den Dunnen
?/. - c.-34G>A r.(?) p.(=) Unknown - VUS g.42698271C>T g.42843128C>T - - THAP1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32C>T r.(?) p.? Unknown - VUS g.42698269G>A g.42843126G>A - - THAP1_000055 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL4325 PubMed: Lohmann 2012 no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.2del r.(?) p.(Met1?) Parent #1 - pathogenic (dominant) g.42698236del g.42843093del 2delT - THAP1_000054 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam3 PubMed: Bressman 2009 2-generation family, 2 affected - - - Europe - - - - 2 Johan den Dunnen
+/. - c.5_6insA r.(?) p.(Gln3Alafs*32) Unknown - VUS g.42698232_42698233insT - 6insA (V2fs) - THAP1_000059 - PubMed: Veeramah 2013 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES EE PatJ PubMed: Veeramah 2013 2-generation family, 1 affected, unaffected heterozygous carrier parents M - United States - - - - - 1 Johan den Dunnen
+/. - c.7C>T r.(?) p.(Gln3Ter) Unknown - pathogenic g.42698231G>A g.42843088G>A - - THAP1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.8A>C r.(?) p.(Gln3Pro) Unknown - VUS g.42698230T>G g.42843087T>G - - THAP1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.17C>T r.(?) p.(Ser6Phe) Unknown - pathogenic g.42698221G>A g.42843078G>A - - THAP1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25G>T r.(?) p.(Gly9Cys) Parent #1 - pathogenic (dominant) g.42698213C>A g.42843070C>A - - THAP1_000053 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT FamA PubMed: Xiao 2010 3-generation family, 3 affected (2F, M), 1 unaffected carriers (F) F;M - United States - - - - - 3 Johan den Dunnen
+/. - c.36C>A r.(?) p.(Asn12Lys) Parent #1 - pathogenic (dominant) g.42698202G>T g.42843059G>T - - THAP1_000052 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam8 PubMed: Bressman 2009 2-generation family, 1 affected - - - Europe - - - - 1 Johan den Dunnen
+/. - c.36C>A r.(?) p.(Asn12Lys) Parent #1 - NA g.42698202G>T g.42843059G>T - - THAP1_000052 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.38G>A r.(?) p.(Arg13His) Parent #1 - pathogenic g.42698200C>T g.42843057C>T - - THAP1_000051 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL3969 PubMed: Lohmann 2012 no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. - c.38G>A - p.Arg13His Unknown - NA g.42698200C>T g.42843057C>T - - THAP1_000051 luciferase reporter gene assay 0.8 THAP1 activity PubMed: Lohmann 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.46A>G r.(?) p.(Lys16Glu) Parent #1 - pathogenic g.42698192T>C g.42843049T>C - - THAP1_000050 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL4071 PubMed: Lohmann 2012 no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.46A>G - p.Lys16Glu Unknown - NA g.42698192T>C g.42843049T>C - - THAP1_000050 luciferase reporter gene assay 0.6 THAP1 activity PubMed: Lohmann 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.50A>G r.(?) p.(Asp17Gly) Parent #1 - pathogenic g.42698188T>C g.42843045T>C - - THAP1_000049 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT PatD-1378 PubMed: Xiao 2010 patient F - United States - - - - - 1 Johan den Dunnen
?/. - c.57C>T r.(?) p.(Pro19=) Unknown - VUS g.42698181G>A g.42843038G>A - - THAP1_000048 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT patient PubMed: Xiao 2010 - - - United States white - - - - 1 Johan den Dunnen
+/. - c.61T>A r.(?) p.(Ser21Thr) Parent #1 - pathogenic (dominant) g.42698177A>T g.42843034A>T - - THAP1_000047 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam9 PubMed: Bressman 2009 2-generation family, 2 affected - - - Europe - - - - 2 Johan den Dunnen
+?/. - c.61T>A r.(?) p.(Ser21Thr) Parent #1 - NA g.42698177A>T g.42843034A>T - - THAP1_000047 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.61T>A r.(?) p.(Ser21Thr) Both (homozygous) - NA g.42698177A>T g.42843034A>T - - THAP1_000047 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling; effect homozygous change much stronger compared to heterozygous Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.68A>C r.(?) p.(His23Pro) Parent #1 - pathogenic (dominant) g.42698170T>G g.42843027T>G - - THAP1_000046 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL4155 PubMed: Lohmann 2012 family M - Germany - - - - - 1 Johan den Dunnen
+/. - c.68A>C - p.His23Pro Unknown - NA g.42698170T>G g.42843027T>G - - THAP1_000046 luciferase reporter gene assay 0.2 THAP1 activity PubMed: Lohmann 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.68A>C r.(?) p.(His23Pro) Parent #1 - NA g.42698170T>G g.42843027T>G - - THAP1_000046 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.70A>G r.(?) p.(Lys24Glu) Parent #1 - pathogenic g.42698168T>C g.42843025T>C - - THAP1_000045 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL3841 PubMed: Lohmann 2012 no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.70A>G - p.Lys24Glu Unknown - NA g.42698168T>C g.42843025T>C - - THAP1_000045 luciferase reporter gene assay 0.6 THAP1 activity PubMed: Lohmann 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71+9C>A r.(=) p.(=) Unknown - likely benign g.42698158G>T g.42843015G>T THAP1(NM_018105.2):c.71+9C>A, THAP1(NM_018105.3):c.71+9C>A - THAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71+9C>A r.(=) p.(=) Unknown - likely benign g.42698158G>T g.42843015G>T THAP1(NM_018105.2):c.71+9C>A, THAP1(NM_018105.3):c.71+9C>A - THAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.71+9C>A r.(=) p.(=) Unknown - likely benign g.42698158G>T - THAP1(NM_018105.2):c.71+9C>A, THAP1(NM_018105.3):c.71+9C>A - THAP1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.71+9C>A r.(?) p.(?) Unknown - VUS g.42698158G>T g.42843015G>T - - THAP1_000004 - PubMed: Xiao 2010 - - Germline - 7/1210 patients - - - DNA SEQ - - DYT patients PubMed: Xiao 2010 - - - United States - - - - - 7 Johan den Dunnen
?/. - c.71+9C>A r.(?) p.(?) Unknown - VUS g.42698158G>T g.42843015G>T - - THAP1_000004 - PubMed: Xiao 2010 - - Germline - 1/600 controls - - - DNA SEQ - - Healthy/Control controls PubMed: Xiao 2010 - - - United States - - - - - 1 Johan den Dunnen
+/. - c.72-1G>T r.spl? p.? Unknown - pathogenic g.42694525C>A g.42839382C>A - - THAP1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.77C>G r.(?) p.(Pro26Arg) Parent #1 - NA g.42694519G>C g.42839376G>C - - THAP1_000044 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.77C>T r.(?) p.(Pro26Leu) Parent #1 - pathogenic (dominant) g.42694519G>A g.42839376G>A - - THAP1_000043 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL4318 PubMed: Lohmann 2012 family M - Germany - - - - - 1 Johan den Dunnen
+/. - c.77C>T - p.Pro26Leu Unknown - NA g.42694519G>A g.42839376G>A - - THAP1_000043 luciferase reporter gene assay 0.4 THAP1 activity PubMed: Lohmann 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.85C>T r.(?) p.(Arg29Ter) Parent #1 - pathogenic (dominant) g.42694511G>A g.42839368G>A - - THAP1_000042 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam4 PubMed: Bressman 2009 2-generation family, 3 affected - - - Europe - - - - 3 Johan den Dunnen
+/. - c.86G>A r.(?) p.(Arg29Gln) Unknown - pathogenic g.42694510C>T g.42839367C>T THAP1(NM_018105.3):c.86G>A (p.R29Q) - THAP1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.86G>C r.(?) p.(Arg29Pro) Unknown - VUS g.42694510C>G g.42839367C>G THAP1(NM_018105.3):c.86G>C (p.R29P) - THAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.86G>C r.(?) p.(Arg29Pro) Unknown - pathogenic g.42694510C>G - THAP1(NM_018105.3):c.86G>C (p.R29P) - THAP1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.86G>C r.(?) p.(Arg29Pro) Parent #1 - pathogenic (dominant) g.42694510C>G g.42839367C>G - - THAP1_000010 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam7 PubMed: Bressman 2009 3-generation family, 2 affected, 1 asymptomatic carrier - - - Europe - - - - 2 Johan den Dunnen
?/. - c.98G>A r.(?) p.(Cys33Tyr) Unknown - VUS g.42694498C>T g.42839355C>T - - THAP1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.115G>A r.(?) p.(Ala39Thr) Parent #1 - pathogenic (dominant) g.42694481C>T g.42839338C>T - - THAP1_000041 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam5 PubMed: Bressman 2009 3-generation family, 3 affected, 1 asymptomatic carrier - - - Europe - - - - 3 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamWPat303 PubMed: Fuchs 2009 4-generation family, 2 affected (2M), 1 asymptomatic M - United States Amish-Mennonite - - - - 2 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamWPat502 PubMed: Fuchs 2009 - M - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat524 PubMed: Fuchs 2009 family, 14 affected M - United States Amish-Mennonite - - - - 14 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat212 PubMed: Fuchs 2009 - M - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat309 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat319 PubMed: Fuchs 2009 - M - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat334 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat342 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat404 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat417 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat481 PubMed: Fuchs 2009 - M - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat486 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat514 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat516 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat517 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamMPat522 PubMed: Fuchs 2009 - M - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamCPat417 PubMed: Fuchs 2009 family, 6 affected M - United States Amish-Mennonite - - - - 6 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamCPat419 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamCPat470 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamCPat498 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamCPat512 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamCPat526 PubMed: Fuchs 2009 - F - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamRPat309 PubMed: Fuchs 2009 family, 2 affected M - United States Amish-Mennonite - - - - 2 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC [134_135insGGGTT;137_139delAAC] F45fs73x - THAP1_000040 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamRPat401 PubMed: Fuchs 2009 - M - United States Amish-Mennonite - - - - 1 Johan den Dunnen
+/. - c.135_139delinsGGGTTTA r.(?) p.(Phe45LeufsTer29) Parent #1 - pathogenic (dominant) g.42694457_42694461delinsTAAACCC g.42839314_42839318delinsTAAACCC 134_135insGGGTT;137_139delAAC - THAP1_000040 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam2 PubMed: Bressman 2009 2-generation family, 2 affected - - - Europe - - - - 2 Johan den Dunnen
+/. - c.161G>A r.(?) p.(Cys54Tyr) Parent #1 - NA g.42694435C>T g.42839292C>T - - THAP1_000039 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling; no significant effects observed Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176C>T r.(?) p.(Thr59Ile) Unknown - VUS g.42694420G>A - THAP1(NM_018105.3):c.176C>T (p.T59I) - THAP1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.(45_176)_(580_?)del r.(?) p.(?) Unknown - pathogenic g.(?_42693105)_(42694524_?)del - - - THAP1_000020 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.(45_176)_(580_?)del r.(?) p.(?) Unknown - pathogenic g.(?_42693105)_(42694524_?)del - - - THAP1_000020 - - - - Unknown - - - - - DNA SEQ - - ? - - - F - - - - - - - 1 IMGAG
+/. - c.(45_176)_(580_?)del r.(?) p.(?) Unknown - pathogenic g.(?_42693105)_(42694524_?)del - - - THAP1_000020 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
-/. - c.238A>G r.(?) p.(Ile80Val) Unknown - benign g.42694358T>C g.42839215T>C - - THAP1_000038 - PubMed: Lohmann 2012 - - Germline - - - - - DNA SEQ - - DYT PatL4457 PubMed: Lohmann 2012 no family history M - Germany - - - - - 1 Johan den Dunnen
-/. - c.238A>G - p.Ile80Val Unknown - NA g.42694358T>C g.42839215T>C - - THAP1_000038 luciferase reporter gene assay 1.0 THAP1 activity PubMed: Lohmann 2012 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.241T>C r.(?) p.(Phe81Leu) Parent #1 - pathogenic (dominant) g.42694355A>G g.42839212A>G - - THAP1_000037 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamSPat416 PubMed: Fuchs 2009 3-generation family, 4 affected (2F, 2M) F - Germany;United States - - - - - 4 Johan den Dunnen
+/. - c.241T>C r.(?) p.(Phe81Leu) Parent #1 - pathogenic (dominant) g.42694355A>G g.42839212A>G - - THAP1_000037 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamSPat413 PubMed: Fuchs 2009 - M - United States;Germany - - - - - 1 Johan den Dunnen
+/. - c.241T>C r.(?) p.(Phe81Leu) Parent #1 - pathogenic (dominant) g.42694355A>G g.42839212A>G - - THAP1_000037 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamSPat411 PubMed: Fuchs 2009 - M - United States;Germany - - - - - 1 Johan den Dunnen
+/. - c.241T>C r.(?) p.(Phe81Leu) Parent #1 - pathogenic (dominant) g.42694355A>G g.42839212A>G - - THAP1_000037 - PubMed: Fuchs 2009 - - Germline - - - - - DNA SEQ - - DYT FamSPat302 PubMed: Fuchs 2009 - F - United States;Germany - - - - - 1 Johan den Dunnen
?/. - c.247T>C r.(?) p.(Cys83Arg) Unknown - VUS g.42694349A>G - - - THAP1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.250_251del r.(?) p.(Thr84*) Unknown - pathogenic g.42694345_42694346del - THAP1(NM_018105.3):c.250_251delAC (p.T84*) - THAP1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.266A>G r.(?) p.(Lys89Arg) Parent #1 - pathogenic (dominant) g.42694330T>C g.42839187T>C - - THAP1_000036 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam6 PubMed: Bressman 2009 4-generation family, 4 affected - - - Europe - - - - 4 Johan den Dunnen
?/. - c.317C>T r.(?) p.(Pro106Leu) Unknown - VUS g.42693430G>A g.42838287G>A - - THAP1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.387C>G r.(?) p.(Leu129=) Unknown - likely benign g.42693360G>C g.42838217G>C - - THAP1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.388_389del r.(?) p.(Val131PhefsTer3) Parent #1 - pathogenic (dominant) g.42693362_42693363del g.42838219_42838220del 388_389delTC - THAP1_000035 - PubMed: Djarmati 2009 - - Germline - - - - - DNA SEQ - - DYT Pat1(7021) PubMed: Djarmati 2009 - M - Germany - - - - - 1 Johan den Dunnen
+/. - c.395T>C r.(?) p.(Phe132Ser) Parent #1 - pathogenic g.42693352A>G g.42838209A>G - - THAP1_000034 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT PatE-6144 PubMed: Xiao 2010 patient F - United States - - - - - 1 Johan den Dunnen
+?/. - c.408C>G r.(?) p.(Asn136Lys) Unknown - likely pathogenic g.42693339G>C - - - THAP1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.421G>T r.(?) p.(Asp141Tyr) Unknown - VUS g.42693326C>A g.42838183C>A THAP1(NM_018105.3):c.421G>T (p.D141Y) - THAP1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.426A>C r.(?) p.(Thr142=) Unknown - likely benign g.42693321T>G - THAP1(NM_018105.2):c.426A>C (p.T142=) - THAP1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.427A>G r.(?) p.(Met143Val) Unknown ACMG VUS g.42693320T>C - - - THAP1_000023 ACMG: PM2, BP4: class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - DYT 173221 - - F - - - - - - - 1 Andreas Laner
-?/. - c.427A>G r.(?) p.(Met143Val) Parent #1 - NA g.42693320T>C g.42838177T>C - - THAP1_000023 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.436_443del r.(?) p.(Arg146Aspfs∗9) Parent #1 - NA g.42693306_42693313del g.42838163_42838170del - - THAP1_000033 variant introduced in induced pluripotent stem cell, characterisation incl. transcript profiling Journal: Domingo 2021 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.446T>C r.(?) p.(Ile149Thr) Parent #1 - pathogenic (dominant) g.42693301A>G g.42838158A>G - - THAP1_000032 - PubMed: Xiao 2010 - - Germline - - - - - DNA SEQ - - DYT FamB PubMed: Xiao 2010 4-generation family, 3 affected (F, 2M) F;M - United States - - - - - 3 Johan den Dunnen
+/. - c.460del r.(?) p.(Gln154SerfsTer27) Parent #1 - pathogenic (dominant) g.42693287del g.42838144del 460delC - THAP1_000031 - PubMed: Bressman 2009 - - Germline - - - - - DNA SEQ - - DYT Fam1 PubMed: Bressman 2009 3-generation family, 6 affected - - - Europe - - - - 6 Johan den Dunnen
+?/. - c.464A>C r.(?) p.(Gln155Pro) Unknown - likely pathogenic g.42693283T>G g.42838140T>G - - THAP1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465A>G r.(?) p.(Gln155=) Unknown - likely benign g.42693282T>C g.42838139T>C THAP1(NM_018105.2):c.465A>G (p.Q155=) - THAP1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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