Unique variants in gene TUBA8

Information The variants shown are described using the NM_018943.2 transcript reference sequence.

14 entries on 1 page. Showing entries 1 - 14.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     
-?/. 1 - c.3+17C>G likely benign r.(=) p.(=) g.18593651C>G - TUBA8(NM_018943.2):c.3+17C>G - TUBA8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.115C>G likely benign r.(?) p.(Gln39Glu) g.18604357C>G - TUBA8(NM_001193414.1):c.-84C>G (p.(=)) - TUBA8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.251G>A VUS r.(?) p.(Arg84His) g.18606947G>A - TUBA8(NM_018943.2):c.251G>A (p.R84H) - TUBA8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.383C>T benign r.(?) p.(Ala128Val) g.18609128C>T - TUBA8(NM_018943.2):c.383C>T (p.A128V) - TUBA8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.445T>C VUS r.(?) p.(Phe149Leu) g.18609190T>C - TUBA8(NM_018943.2):c.445T>C (p.F149L) - TUBA8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.748G>A VUS r.(?) p.(Val250Met) g.18609493G>A - TUBA8(NM_018943.2):c.748G>A (p.V250M) - TUBA8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.816C>T benign r.(?) p.(=) g.18609561C>T - TUBA8(NM_018943.2):c.816C>T (p.Y272=) - TUBA8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.897C>T benign r.(?) p.(=) g.18609642C>T - TUBA8(NM_018943.2):c.897C>T (p.N299=) - TUBA8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.915C>T likely benign r.(?) p.(=) g.18609660C>T - TUBA8(NM_018943.2):c.915C>T (p.C305=) - TUBA8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.954C>G likely benign r.(?) p.(=) g.18609699C>G - TUBA8(NM_018943.2):c.954C>G (p.L318=) - TUBA8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1057-7C>T benign r.(=) p.(=) g.18613603C>T - TUBA8(NM_018943.2):c.1057-7C>T - TUBA8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1079C>T VUS r.(?) p.(Pro360Leu) g.18613632C>T - TUBA8(NM_018943.2):c.1079C>T (p.P360L) - TUBA8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1080G>A likely benign r.(?) p.(=) g.18613633G>A - TUBA8(NM_018943.2):c.1080G>A (p.P360=) - TUBA8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1185C>T likely benign r.(?) p.(=) g.18613738C>T - TUBA8(NM_018943.2):c.1185C>T (p.F395=) - TUBA8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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