Full data view for gene GBE1

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

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

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.1519A>G r.(?) p.(Thr507Ala) Unknown - benign g.81627175T>C g.81578024T>C GBE1(NM_000158.3):c.1519A>G (p.T507A, p.(Thr507Ala)) - GBE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1519A>G r.(?) p.(Thr507Ala) Unknown - benign g.81627175T>C g.81578024T>C GBE1(NM_000158.3):c.1519A>G (p.T507A, p.(Thr507Ala)) - GBE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1519A>G r.(?) p.(Thr507Ala) Both (homozygous) - likely benign g.81627175T>C g.81578024T>C - - GBE1_000025 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs2228389 Germline - 5/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-/. - c.1519A>G r.(?) p.(Thr507Ala) Unknown - benign g.81627175T>C - GBE1(NM_000158.3):c.1519A>G (p.T507A, p.(Thr507Ala)) - GBE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query