Full data view for gene TUBG1

Information The variants shown are described using the NM_001070.4 transcript reference sequence.

34 entries on 1 page. Showing entries 1 - 34.
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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     
?/. - c.-32064G>A r.(?) p.(=) Unknown - VUS g.40729692G>A - PSMC3IP(NM_016556.3):c.13C>T (p.R5W) - FAM134C_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.50-15G>T r.(=) p.(=) Unknown - likely benign g.40762111G>T g.42610093G>T TUBG1(NM_001070.4):c.50-15G>T - FAM134C_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50-3C>A r.spl? p.? Unknown - VUS g.40762123C>A - TUBG1(NM_001070.4):c.50-3C>A, TUBG1(NM_001070.5):c.50-3C>A - FAM134C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.50-3C>A r.spl? p.? Unknown - likely benign g.40762123C>A - TUBG1(NM_001070.4):c.50-3C>A, TUBG1(NM_001070.5):c.50-3C>A - FAM134C_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.50-3C>A r.49_50= p.= Unknown - VUS g.40762123C>A g.42610105C>A - - FAM134C_000011 no effect on RNA - - - In vitro (cloned) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG fibroblasts mRNA splicing analysis on tissue ? - - - - - Netherlands - - - - - 1 Tjakko van Ham
+?/. 2 c.63C>A r.(?) p.(Phe21Leu) Unknown - likely pathogenic g.40762139C>A g.42610121C>A - - TUBG1_000001 - - - - De novo - - - - - DNA SEQ-NG blood gene panel CDCBM4 - - - M no - - - - - - 1 Katrien Stouffs
-?/. - c.460T>C r.(?) p.(Leu154=) Unknown - likely benign g.40764505T>C g.42612487T>C TUBG1(NM_001070.4):c.460T>C (p.L154=) - TUBG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.479+7T>C r.(=) p.(=) Unknown - likely benign g.40764531T>C g.42612513T>C TUBG1(NM_001070.4):c.479+7T>C - TUBG1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.587C>T r.(?) p.(Thr196Met) Unknown - VUS g.40765072C>T - TUBG1(NM_001070.5):c.587C>T (p.T196M) - FAM134C_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.730C>T r.(?) p.(Arg244Cys) Unknown - VUS g.40765903C>T - TUBG1(NM_001070.4):c.730C>T (p.(Arg244Cys)) - FAM134C_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.757C>T r.(?) p.(Leu253Phe) Unknown - likely pathogenic g.40765930C>T - - - FAM134C_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 8 c.769A>T r.(?) p.(Ile257Phe) Unknown - likely pathogenic g.40765942A>T g.42613924A>T - - TUBG1_000004 - - - - De novo - - - - - DNA SEQ-NG - - CDCBM4 - - - M - - - - - - - 1 Katrien Stouffs
+?/. 8 c.776C>T r.(?) p.(Ser259Leu) Unknown - likely pathogenic g.40765949C>T g.42613931C>T - - TUBG1_000003 - - - - De novo - - - - - DNA SEQ-NG - - CDCBM4 - - - F - - - - - - - 1 Katrien Stouffs
+?/. 8 c.776C>T r.(?) p.(Ser259Leu) Unknown - likely pathogenic g.40765949C>T g.42613931C>T - - TUBG1_000003 - - - - De novo - - - - - DNA SEQ-NG - - CDCBM4 - - - F - - - - - - - 1 Katrien Stouffs
+?/. 8 c.776C>T r.(?) p.(Ser259Leu) Unknown - likely pathogenic g.40765949C>T g.42613931C>T - - TUBG1_000003 - - - - Germline - - - - - DNA SEQ-NG - WES CDCBM4 - - - F - - - - - - - 1 Katrien Stouffs
+?/. 8 c.776C>T r.(?) p.(Ser259Leu) Unknown - likely pathogenic g.40765949C>T g.42613931C>T - - TUBG1_000003 - - - - Germline - - - - - DNA SEQ-NG - WES CDCBM4 - - - M - - - - - - - 1 Katrien Stouffs
+?/. 8 c.776C>T r.(?) p.(Ser259Leu) Unknown - likely pathogenic g.40765949C>T g.42613931C>T - - TUBG1_000003 - - - - De novo - - - - - DNA SEQ-NG - WES CDCBM4 - - - F - - - - - - - 1 Katrien Stouffs
-?/. - c.834G>A r.(?) p.(Thr278=) Unknown - likely benign g.40766007G>A g.42613989G>A TUBG1(NM_001070.4):c.834G>A (p.T278=) - FAM134C_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.985G>T r.(?) p.(Asp329Tyr) Unknown - likely pathogenic g.40766419G>T g.42614401G>T - - TUBG1_000002 - - - - Germline/De novo (untested) - - - - - DNA SEQ-NG blood - CDCBM4 - - - M no - - - - - - 1 Katrien Stouffs
?/. - c.1022G>A r.(?) p.(Arg341Gln) Unknown - VUS g.40766539G>A g.42614521G>A - - TUBG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1029C>G r.(?) p.(Arg343=) Unknown - benign g.40766546C>G g.42614528C>G TUBG1(NM_001070.4):c.1029C>G (p.R343=) - TUBG1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1107G>A r.(?) p.(Ser369=) Unknown - VUS g.40766624G>A g.42614606G>A TUBG1(NM_001070.4):c.1107G>A (p.S369=) - FAM134C_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1157C>T r.(?) p.(Ser386Leu) Unknown - VUS g.40766674C>T - TUBG1(NM_001070.5):c.1157C>T (p.(Ser386Leu)) - FAM134C_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1275G>A r.(?) p.(Arg425=) Unknown - likely benign g.40766978G>A g.42614960G>A TUBG1(NM_001070.4):c.1275G>A (p.R425=) - TUBG1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1296C>T r.(?) p.(Ile432=) Unknown - likely benign g.40766999C>T g.42614981C>T TUBG1(NM_001070.4):c.1296C>T (p.I432=) - TUBG1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1310C>T r.(?) p.(Ala437Val) Unknown - likely benign g.40767013C>T - TUBG1(NM_001070.4):c.1310C>T (p.(Ala437Val)) - FAM134C_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1311G>A r.(?) p.(Ala437=) Unknown - likely benign g.40767014G>A - TUBG1(NM_001070.4):c.1311G>A (p.A437=) - FAM134C_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1318C>T r.(?) p.(Arg440Trp) Unknown - VUS g.40767021C>T g.42615003C>T TUBG1(NM_001070.4):c.1318C>T (p.R440W, p.(Arg440Trp)), TUBG1(NM_001070.5):c.1318C>T (p.R440W) - FAM134C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1318C>T r.(?) p.(Arg440Trp) Unknown - likely benign g.40767021C>T - TUBG1(NM_001070.4):c.1318C>T (p.R440W, p.(Arg440Trp)), TUBG1(NM_001070.5):c.1318C>T (p.R440W) - FAM134C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1318C>T r.(?) p.(Arg440Trp) Unknown - likely benign g.40767021C>T - TUBG1(NM_001070.4):c.1318C>T (p.R440W, p.(Arg440Trp)), TUBG1(NM_001070.5):c.1318C>T (p.R440W) - FAM134C_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1319G>A r.(?) p.(Arg440Gln) Unknown - likely benign g.40767022G>A g.42615004G>A TUBG1(NM_001070.4):c.1319G>A (p.R440Q) - FAM134C_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1328A>G r.(?) p.(Tyr443Cys) Unknown - VUS g.40767031A>G - TUBG1(NM_001070.4):c.1328A>G (p.Y443C) - FAM134C_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1349A>G r.(?) p.(Glu450Gly) Unknown - VUS g.40767052A>G g.42615034A>G TUBG1(NM_001070.4):c.1349A>G (p.E450G, p.(Glu450Gly)) - TUBG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1349A>G r.(?) p.(Glu450Gly) Unknown - VUS g.40767052A>G - TUBG1(NM_001070.4):c.1349A>G (p.E450G, p.(Glu450Gly)) - TUBG1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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