Full data view for gene TUBB1

Information The variants shown are described using the NM_030773.3 transcript reference sequence.

22 entries on 1 page. Showing entries 1 - 22.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. 2 c.128A>C r.(?) p.(Gln43Pro) Maternal (confirmed) - likely benign g.57597970A>C g.59022915A>C Q43P - TUBB1_000003 - PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline yes - - 0 - DNA SEQ - - macrothrombocytopenia, autosomal dominant, TUBB1-related - PubMed: Kunishima 2009, Journal: Kunishima 2009 son and carrier mother M no Japan - >07y 0 - - 2 Johan den Dunnen
-/. 2 c.128A>C r.(?) p.(Gln43Pro) Parent #1 - benign g.57597970A>C g.59022915A>C - - TUBB1_000003 platelet size 3.1+/-0.5) PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 10/30 controls PvuII- 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 30 Johan den Dunnen
-/. 2 c.128A>C r.(?) p.(Gln43Pro) Parent #1 - benign g.57597970A>C g.59022915A>C - - TUBB1_000003 platelet size 2.5) PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 1/30 controls PvuII- 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 30 Johan den Dunnen
-/. 2 c.128A>C r.(?) p.(Gln43Pro) Both (homozygous) - benign g.57597970A>C g.59022915A>C - - TUBB1_000003 platelet size 2.9) PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 1/30 controls PvuII- 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 30 Johan den Dunnen
-/. 2 c.128A>C r.(?) p.(Gln43Pro) Unknown - benign g.57599402G>A g.59024347G>A - - TUBB1_000004 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 2/16 cases NcoI+ 0 - DNA PCRdig, SEQ - - macrothrombocytopenia, autosomal dominant, TUBB1-related - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 16 Johan den Dunnen
-/. 2 c.128A>C r.(?) p.(Gln43Pro) Unknown - benign g.57599402G>A g.59024347G>A - - TUBB1_000004 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 12/108 controls NcoI+ 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 108 Johan den Dunnen
+?/. - c.165C>A r.(?) p.(Tyr55Ter) Unknown - likely pathogenic g.57598007C>A - - - TUBB1_000006 - - - rs761692558 Unknown - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.326G>A r.(?) p.(Gly109Glu) Unknown - likely benign g.57598808G>A g.59023753G>A TUBB1(NM_030773.3):c.326G>A (p.G109E) - ATP5E_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.534T>G r.(?) p.(Thr178=) Unknown - benign g.57599016T>G g.59023961T>G TUBB1(NM_030773.3):c.534T>G (p.T178=) - TUBB1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.554C>T r.(?) p.(Ala185Val) Unknown - VUS g.57599036C>T g.59023981C>T TUBB1(NM_030773.3):c.554C>T (p.A185V) - ATP5E_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 4 c.920G>A r.(?) p.(Arg307His) Paternal (inferred) - likely benign g.57599402G>A g.59024347G>A R307H - TUBB1_000004 - PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline no - - 0 - DNA SEQ - - macrothrombocytopenia, autosomal dominant, TUBB1-related - PubMed: Kunishima 2009, Journal: Kunishima 2009 son and carrier mother M no Japan - >07y 0 - - 2 Johan den Dunnen
-/. 4 c.920G>A r.(?) p.(Arg307His) Parent #1 - benign g.57599402G>A g.59024347G>A - - TUBB1_000004 platelet size 3.1+/-0.3) PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 7/30 controls NcoI+ 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 30 Johan den Dunnen
-/. 4 c.920G>A r.(?) p.(Arg307His) Both (homozygous) - benign g.57599402G>A g.59024347G>A - - TUBB1_000004 platelet size 2.7) PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 1/30 controls NcoI+ 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 30 Johan den Dunnen
-/. 4 c.920G>A r.(?) p.(Arg307His) Unknown - benign g.57599402G>A g.59024347G>A - - TUBB1_000004 platelet size 2.5) PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 1/30 controls NcoI+ 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 30 Johan den Dunnen
-/. 4 c.920G>A r.(?) p.(Arg307His) Unknown - benign g.57597970A>C g.59022915A>C - - TUBB1_000003 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 3/16 cases PvuII- 0 - DNA PCRdig, SEQ - - macrothrombocytopenia, autosomal dominant, TUBB1-related - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 16 Johan den Dunnen
-/. 4 c.920G>A r.(?) p.(Arg307His) Unknown - benign g.57597970A>C g.59022915A>C - - TUBB1_000003 Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline - 6/108 controls PvuII- 0 - DNA PCRdig, SEQ - - - - PubMed: Krawitz 2013, Journal: Krawitz 2013 - - - Japan - - 0 - - 108 Johan den Dunnen
-/. - c.920G>A r.(?) p.(Arg307His) Unknown - benign g.57599402G>A g.59024347G>A TUBB1(NM_030773.3):c.920G>A (p.R307H) - TUBB1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 4 c.925C>T r.(?) p.(Arg309Cys) Both (homozygous) - likely benign g.57599407C>T g.59024352C>T - - TUBB1_000001 variant predicted damaging but unlikely to cause phenotype since TUBB1 variants cause macrothrombocytopenia of which the patients showed no signs PubMed: Kvarnung 2013 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - - ID - PubMed: Kvarnung 2013 5-generation family, 4-affecteds (4F), unaffected heterozygous carrier relatives - yes Turkey Aramaic - 0 - - 4 Johan den Dunnen
+/. 4 c.952C>T r.(?) p.(Arg318Trp) Maternal (confirmed) - pathogenic g.57599434C>T g.59024379C>T R318W (C>T) - TUBB1_000002 antibody staining cells shows reduced expression (0.5); cultured mature megakaryocytes show large and irregular bleb protrusions PubMed: Kunishima 2009, Journal: Kunishima 2009, OMIM:var0001 - - Germline yes - - 0 - DNA SEQ - - macrothrombocytopenia, autosomal dominant, TUBB1-related - PubMed: Kunishima 2009, Journal: Kunishima 2009 son and carrier mother M no Japan - >07y 0 - - 2 Johan den Dunnen
+?/. 4 c.952C>T r.(?) p.Arg318Trp Unknown - NA g.57599434C>T g.59024379C>T - - TUBB1_000002 expression cloning CHO cells gave accumulated punctuate structures in cytoplasm PubMed: Kunishima 2009, Journal: Kunishima 2009 - - In vitro (cloned) - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1075C>T r.(?) p.(Arg359Trp) Unknown - VUS g.57599557C>T - - - ATP5E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*5644T>C r.(=) p.(=) Unknown - pathogenic g.57605482T>C - - - ATP5E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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