Full data view for gene GBE1

Information The variants shown are described using the NM_000158.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.2017G>A r.(?) p.(Ala673Thr) Unknown - likely benign g.81548296C>T g.81499145C>T GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T), GBE1(NM_000158.4):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017G>A r.(?) p.(Ala673Thr) Unknown - likely benign g.81548296C>T g.81499145C>T GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T), GBE1(NM_000158.4):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2017G>A r.(?) p.(Ala673Thr) Unknown - likely benign g.81548296C>T - GBE1(NM_000158.3):c.2016G>A (p.(Ala673Thr)), GBE1(NM_000158.3):c.2017G>A (p.A673T), GBE1(NM_000158.4):c.2017G>A (p.A673T) - GBE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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