Unique variants in the TUBB1 gene

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

10 entries on 1 page. Showing entries 1 - 10.
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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     
-/., -?/. 6 2 c.128A>C r.(?) p.(Gln43Pro) - benign, likely benign g.57597970A>C, g.57599402G>A g.59022915A>C, g.59024347G>A Q43P - TUBB1_000003, TUBB1_000004 platelet size 2.5), platelet size 2.9), platelet size 3.1+/-0.5), 1 more item PubMed: Kunishima 2009, Journal: Kunishima 2009 - - Germline -, yes 1/30 controls, 10/30 controls, 12/108 controls, 2/16 cases NcoI+, PvuII- - - Johan den Dunnen
+?/. 1 - c.165C>A r.(?) p.(Tyr55Ter) - likely pathogenic g.57598007C>A - - - TUBB1_000006 - - - rs761692558 Unknown - - - - - MobiDetails
-?/. 1 - c.326G>A r.(?) p.(Gly109Glu) - 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 - - - - - VKGL-NL_Rotterdam
-/. 1 - c.534T>G r.(?) p.(Thr178=) - 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 - - - - - VKGL-NL_Groningen
?/. 1 - c.554C>T r.(?) p.(Ala185Val) - 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 - - - - - VKGL-NL_Rotterdam
-/., -?/. 7 4 c.920G>A r.(?) p.(Arg307His) - benign, likely benign g.57597970A>C, g.57599402G>A g.59022915A>C, g.59024347G>A R307H, TUBB1(NM_030773.3):c.920G>A (p.R307H) - TUBB1_000003, TUBB1_000004 platelet size 2.5), platelet size 2.7), platelet size 3.1+/-0.3), 2 more items PubMed: Kunishima 2009, Journal: Kunishima 2009 - - CLASSIFICATION record, Germline -, no 1/30 controls, 3/16 cases, 6/108 controls, 7/30 controls NcoI+, PvuII- - - Johan den Dunnen, VKGL-NL_Groningen
?/. 1 4 c.925C>T r.(?) p.(Arg309Cys) - likely benign g.57599407C>T g.59024352C>T - - TUBB1_000001 1 more item PubMed: Kvarnung 2013 - - Germline yes - - - - Johan den Dunnen
+/., +?/. 2 4 c.952C>T r.(?) p.(Arg318Trp), p.Arg318Trp - NA, pathogenic g.57599434C>T g.59024379C>T R318W (C>T) - TUBB1_000002 expression cloning CHO cells gave accumulated punctuate structures in cytoplasm, 1 more item PubMed: Kunishima 2009, Journal: Kunishima 2009, 1 more item - - Germline, In vitro (cloned) -, yes - - - - Johan den Dunnen
?/. 1 - c.1075C>T r.(?) p.(Arg359Trp) - VUS g.57599557C>T - - - ATP5E_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.*5644T>C r.(=) p.(=) - pathogenic g.57605482T>C - - - ATP5E_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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