Full data view for gene TOR1A

Information The variants shown are described using the NM_000113.2 transcript reference sequence.

46 entries on 1 page. Showing entries 1 - 46.
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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.-111C>T r.(=) p.(=) Parent #1 - likely benign g.132586475G>A g.129824196G>A - - TOR1A_000005 not in 100 control chromosomes PubMed: Lueng 2001 - - Unknown no - - - - DNA SEQ, SSCA - - Healthy/Control - PubMed: Lueng 2001 - F no Puerto Rico - - - - - 1 Johan den Dunnen
-/. - c.-52T>G r.(?) p.(=) Unknown - benign g.132586416A>C g.129824137A>C - - TOR1A_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/? 1 c.40_45del r.(?) p.(Ala14_Pro15del) Parent #1 - likely pathogenic g.132586321_132586326del g.129824042_129824047del - - TOR1A_000001 - - - - Unknown - - - - - DNA SEQ - - DYT - - - - - Germany - - - - - 1 Philip Seibler
?/. - c.41C>T r.(?) p.(Ala14Val) Unknown - VUS g.132586324G>A g.129824045G>A - - TOR1A_000020 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG - - DYT - - - - - - - - - - - 1 Gemeinschaftspraxis für Humangenetik Dresden
-?/. - c.153G>A r.(?) p.(Gly51=) Unknown - likely benign g.132586212C>T - TOR1A(NM_000113.2):c.153G>A (p.G51=) - C9orf78_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246C>T r.(?) p.(Ala82=) Unknown - benign g.132585058G>A g.129822779G>A TOR1A(NM_000113.3):c.246C>T (p.A82=) - TOR1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.246C>T r.(?) p.(Ala82=) Unknown - benign g.132585058G>A g.129822779G>A TOR1A(NM_000113.3):c.246C>T (p.A82=) - TOR1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.310A>G r.(?) p.(Thr104Ala) Unknown - likely benign g.132584994T>C - TOR1A(NM_000113.2):c.310A>G (p.(Thr104Ala)) - C9orf78_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.320G>A r.(?) p.(Gly107Asp) Unknown - likely pathogenic g.132584984C>T - - - TOR1A_000029 - - - rs2031214496 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/? 2 c.361G>A r.(?) p.(Glu121Lys) Unknown - likely pathogenic g.132584943C>T g.129822664C>T - - TOR1A_000002 - - - rs199535970 Unknown - - - - - DNA SEQ - - DYT - - - - - Germany - - - - - 1 Philip Seibler
+?/. - c.361G>A r.(?) p.(Glu121Lys) Paternal (confirmed) - likely pathogenic g.132584943C>T - - - TOR1A_000002 - PubMed: Retterer 2015 - - Germline - - - - - DNA SEQ, SEQ-NG - WES (trio) NDD - PubMed: Retterer 2015 - - - United States - - - - - 1 Johan den Dunnen
?/. - c.389A>C r.(?) p.(His130Pro) Unknown - VUS g.132584915T>G g.129822636T>G - - TOR1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/? 2i c.445-22G>A r.= p.= Unknown - likely benign g.132581221C>T g.129818942C>T - - TOR1A_000006 - PubMed: Lueng 2001 - - Unknown ? - - - - DNA, RNA RT-PCR, SEQ, SSCA - - DYT1 - PubMed: Lueng 2001 - M no Puerto Rico - - - - - 1 Johan den Dunnen
-?/. - c.488C>T r.(?) p.(Ala163Val) Unknown - likely benign g.132581156G>A - TOR1A(NM_000113.3):c.488C>T (p.A163V) - TOR1A_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.561C>T r.(?) p.(Leu187=) Unknown - likely benign g.132581083G>A g.129818804G>A TOR1A(NM_000113.2):c.561C>T (p.L187=) - TOR1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 3 c.613T>A r.(?) p.(Phe205Ile) Unknown - pathogenic g.132581031A>T g.129818752A>T - - TOR1A_000009 not in 1600 control chromosomes PubMed: Calakos 2010, OMIM:var0004 - - Unknown - - - - - DNA SEQ - - DYT1 - PubMed: Calakos 2010 - M - United States - - - - - 1 Johan den Dunnen
+/? 3 c.613T>A r.(?) p.Phe205Ile Unknown - NA g.132581031A>T g.129818752A>T - - TOR1A_000009 GFP-fusion expression cloning BHK cells, significantly increased intracellular inclusion bodies PubMed: Calakos 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.617T>G r.(?) p.(Leu206Arg) Unknown - likely pathogenic g.132581027A>C - - - TOR1A_000028 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+?/? 4 c.646G>C r.(?) p.(Asp216His) Unknown - VUS (!) g.132580901C>G g.129818622C>G - - TOR1A_000010 variant has protective effect on disease penetrance c.907_909del (penetrance his216 allele is ~3% versus ~35% asp216 allele); variant not found in 42 symptomatic dystonia patients (35 families) PubMed: Kamm 2008 - rs1801968 Germline yes 6/24 cases - - - DNA SEQ - - Healthy/Control - PubMed: Kamm 2008 24 asymptomatic delGAG carriers - - - - - - - - 6 Johan den Dunnen
-/. - c.646G>C r.(?) p.(Asp216His) Unknown - benign g.132580901C>G g.129818622C>G TOR1A(NM_000113.3):c.646G>C (p.D216H) - TOR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.646G>C r.(?) p.(Asp216His) Unknown - likely benign g.132580901C>G g.129818622C>G TOR1A(NM_000113.3):c.646G>C (p.D216H) - TOR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.646G>C r.(?) p.(Asp216His) Unknown - benign g.132580901C>G g.129818622C>G TOR1A(NM_000113.3):c.646G>C (p.D216H) - TOR1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.715G>A r.(?) p.(Ala239Thr) Unknown - likely benign g.132580832C>T g.129818553C>T TOR1A(NM_000113.2):c.715G>A (p.A239T) - TOR1A_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.716C>T r.(?) p.(Ala239Val) Unknown - VUS g.132580831G>A - TOR1A(NM_000113.3):c.716C>T (p.A239V) - TOR1A_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-11C>A r.(=) p.(=) Unknown - benign g.132576512G>T g.129814233G>T TOR1A(NM_000113.3):c.749-11C>A - TOR1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.749-11C>A r.(=) p.(=) Unknown - benign g.132576512G>T g.129814233G>T TOR1A(NM_000113.3):c.749-11C>A - TOR1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.784C>T r.(?) p.(Leu262Phe) Unknown - VUS g.132576466G>A - TOR1A(NM_000113.2):c.784C>T (p.L262F) - TOR1A_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813C>G r.(?) p.(Pro271=) Unknown - likely benign g.132576437G>C g.129814158G>C TOR1A(NM_000113.2):c.813C>G (p.P271=) - TOR1A_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.860C>A r.(?) p.(Ser287Tyr) Unknown - likely benign g.132576390G>T g.129814111G>T - - TOR1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.862C>T r.(?) p.(Arg288Ter) Both (homozygous) ACMG pathogenic (recessive) g.132576388G>A g.129814109G>A - - TOR1A_000025 ACMG PVS1, PP3, PP5 PubMed: Marinakis 2021 - rs760768475 Germline - - - - - DNA SEQ, SEQ-NG - WES ? 20065 PubMed: Marinakis 2021 - M - Greece - - - - - 1 Jan Traeger-Synodinos
+/? 5 c.863G>A r.(?) p.(Arg288Gln) Maternal (confirmed) - pathogenic g.132576387C>T g.129814108C>T - - TOR1A_000004 not in 1000 control chromosomes PubMed: Zirn 2008 - - Germline yes - - - - DNA SEQ - - DYT1 - PubMed: Zirn 2008 2-generation family, unaffected carrier mother (reduced penetrance) F no Germany - >18y - - - 2 Johan den Dunnen
+/? 5 c.863G>A r.(?) p.Arg288Gln Unknown - NA g.132576387C>T g.129814108C>T - - TOR1A_000004 expression cloning HEK293 cells reduced expression (0.8), focally enlarged perinuclear space nuclear envelope PubMed: Zirn 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.863G>T r.(?) p.(Arg288Leu) Unknown - VUS g.132576387C>A g.129814108C>A TOR1A(NM_000113.3):c.863G>T (p.R288L) - TOR1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.863G>T r.(?) p.(Arg288Leu) Unknown - VUS g.132576387C>A g.129814108C>A TOR1A(NM_000113.3):c.863G>T (p.R288L) - TOR1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.907_909del r.(?) p.(Glu303del) Parent #1 - pathogenic g.132576344_132576346del g.129814065_129814067del - - TOR1A_000003 recurrent variant, detected on at least 4 haplotypes PubMed: Oelius 1997, OMIM:var0001 - rs80358233 Germline yes - - - - DNA SEQ - - DYT1 - PubMed: Ozelius 1997 patients from several different families - - - - - - - - 4 Johan den Dunnen
+/? 5 c.907_909del r.(?) p.Glu303del Unknown - NA g.132576344_132576346del g.129814065_129814067del - - TOR1A_000003 expression cloning HEK293 cells reduced expression (0.5), focally enlarged perinuclear space nuclear envelope PubMed: Zirn 2008 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/? 5 c.907_909del r.(?) p.(Glu303del) Parent #1 - pathogenic g.132576344_132576346del g.129814065_129814067del - - TOR1A_000003 - PubMed: Kamm 2008 - - Germline - 6/24 cases - - - DNA SEQ - - Healthy/Control - PubMed: Kamm 2008 24 asymptomatic delGAG carriers - - - - - - - - 6 Johan den Dunnen
+/. - c.907_909del r.(?) p.(Glu303del) Unknown - pathogenic g.132576344_132576346del g.129814065_129814067del TOR1A(NM_000113.3):c.907_909delGAG (p.E303del) - TOR1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.907_909del r.(?) p.(Glu303del) Unknown - pathogenic g.132576344_132576346del g.129814065_129814067del TOR1A(NM_000113.3):c.907_909delGAG (p.E303del) - TOR1A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.907_909del r.(?) p.(Glu303del) Parent #1 - likely pathogenic g.132576344_132576346del g.129814065_129814067del - - TOR1A_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs724159981 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+/. - c.907_909del r.(?) p.(Glu303del) Unknown - pathogenic g.132576344_132576346del g.129814065_129814067del - - TOR1A_000003 - - - - Unknown - - - - - DNA SEQ - - ? - - - M - - - - - - - 1 IMGAG
+/. - c.907_909del r.(?) p.(Glu303del) Unknown - pathogenic g.132576344_132576346del g.129814065_129814067del 907_909delGAG - TOR1A_000003 - PubMed: Salinas 2020 VCV000005180.7 - Unknown - - - - - DNA SEQ-NG - WES ? Pat105 PubMed: Salinas 2020 patient M - - - - - - - 1 Johan den Dunnen
+/. - c.907_909del r.(?) p.(Glu303del) Unknown - pathogenic (!) g.132576344_132576346del g.129814065_129814067del 907_909delGAG - TOR1A_000003 variant associated with primary torsion dystonia (limited penetrance) PubMed: Filippi 2024 - - Germline/De novo (untested) - - - - - DNA SEQ, SEQ-NG - WES MITCH patient PubMed: Filippi 2024 2-generation family, 1 affected, unaffected non carrier father F - Italy - - - - - 1 Johan den Dunnen
?/? 5 c.934_937del r.(?) p.(Arg312Phefs*14) Unknown - VUS g.132576316_132576319del g.129814037_129814040del 934_937delAGAG - TOR1A_000008 not in 1486 cases/812 controls PubMed: Kabkci 2004 - - Unknown ? - - - - DNA SEQ - - Healthy/Control - PubMed: Kabakci 2004 putatively healthy blood donor ? ? Austria Tirol, south - - - - 1 Johan den Dunnen
+?/? 5 c.966_983del r.(?) p.(Phe323_Tyr328del) Maternal (confirmed) - likely pathogenic g.132576267_132576284del g.129813988_129814005del - - TOR1A_000007 not in 964 control chromosomes PubMed: Lueng 2001, OMIM:var0002 - rs80358235 Germline yes - - - - DNA SEQ, SSCA - - DYT1 - PubMed: Lueng 2001, PubMed: Klein 2002, PubMed: Doheny 2002 3-generation, 4 affected carriers (2M, 2F), variable phenotype, SGCE:c.587T>G variant as well F no Italy;Lithuania;Poland - - - - - 4 Johan den Dunnen
-?/. - c.991G>A r.(?) p.(Asp331Asn) Unknown - likely benign g.132576259C>T g.129813980C>T TOR1A(NM_000113.2):c.991G>A (p.D331N) - TOR1A_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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