Full data view for gene TUBA8

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

18 entries on 1 page. Showing entries 1 - 18.
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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     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.3+17C>G r.(=) p.(=) Unknown - likely benign g.18593651C>G g.18110885C>G TUBA8(NM_018943.2):c.3+17C>G - TUBA8_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.115C>G r.(?) p.(Gln39Glu) Unknown - likely benign g.18604357C>G g.18121590C>G TUBA8(NM_001193414.1):c.-84C>G (p.(=)) - TUBA8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>A r.(?) p.(Arg84His) Unknown - VUS g.18606947G>A g.18124180G>A TUBA8(NM_018943.2):c.251G>A (p.R84H) - TUBA8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.251G>A r.(?) p.(Arg84His) Parent #1 - VUS g.18606947G>A g.18124180G>A - - TUBA8_000014 7 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs137904008 Germline - 7/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 7 Mohammed Faruq
-/. - c.383C>T r.(?) p.(Ala128Val) Unknown - benign g.18609128C>T g.18126361C>T TUBA8(NM_018943.2):c.383C>T (p.A128V) - TUBA8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.445T>C r.(?) p.(Phe149Leu) Unknown - VUS g.18609190T>C g.18126423T>C TUBA8(NM_018943.2):c.445T>C (p.F149L) - TUBA8_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.816C>T r.(?) p.(Tyr272=) Unknown - benign g.18609561C>T g.18126794C>T TUBA8(NM_018943.2):c.816C>T (p.Y272=) - TUBA8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.897C>T r.(?) p.(Asn299=) Unknown - benign g.18609642C>T g.18126875C>T TUBA8(NM_018943.2):c.897C>T (p.N299=) - TUBA8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.902A>G r.(?) p.(Gln301Arg) Parent #1 - VUS g.18609647A>G g.18126880A>G - - TUBA8_000015 10 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs2234333 Germline - 10/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 10 Mohammed Faruq
-?/. - c.915C>T r.(?) p.(Cys305=) Unknown - likely benign g.18609660C>T g.18126893C>T TUBA8(NM_018943.2):c.915C>T (p.C305=) - TUBA8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.954C>G r.(?) p.(Leu318=) Unknown - likely benign g.18609699C>G g.18126932C>G TUBA8(NM_018943.2):c.954C>G (p.L318=) - TUBA8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.958C>T r.(?) p.(Arg320Trp) Parent #1 - VUS g.18609703C>T g.18126936C>T - - TUBA8_000016 2 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs140202346 Germline - 2/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - Faruq 2020, submitted analysis 2794 individuals (India) - - India - - 0 - - 2 Mohammed Faruq
?/. - c.958C>T r.(?) p.(Arg320Trp) Unknown - VUS g.18609703C>T g.18126936C>T TUBA8(NM_018943.2):c.958C>T (p.R320W) - TUBA8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1057-7C>T r.(=) p.(=) Unknown - benign g.18613603C>T g.18130836C>T TUBA8(NM_018943.2):c.1057-7C>T - TUBA8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1079C>T r.(?) p.(Pro360Leu) Unknown - VUS g.18613632C>T g.18130865C>T TUBA8(NM_018943.2):c.1079C>T (p.P360L) - TUBA8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1080G>A r.(?) p.(Pro360=) Unknown - likely benign g.18613633G>A g.18130866G>A TUBA8(NM_018943.2):c.1080G>A (p.P360=) - TUBA8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1185C>T r.(?) p.(Phe395=) Unknown - likely benign g.18613738C>T g.18130971C>T TUBA8(NM_018943.2):c.1185C>T (p.F395=) - TUBA8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1204C>T r.(?) p.(Arg402Trp) Unknown - VUS g.18613757C>T - TUBA8(NM_018943.2):c.1204C>T (p.R402W) - TUBA8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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