Full data view for gene GBE1

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

6 entries on 1 page. Showing entries 1 - 6.
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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     
+/. 7 c.986A>G r.(?) p.(Tyr329Cys) Unknown - pathogenic g.81691938T>C g.81642787T>C - - GBE1_000001 - - - - Germline - - - - - DNA SEQ, SEQ-NG-I - - SCAR - ATX478 - F - France - - - - - 1 Claire Guissart
+/. - c.986A>G r.(?) p.(Tyr329Cys) Parent #1 - pathogenic g.81691938T>C g.81642787T>C - - GBE1_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338671 Germline - 1/2793 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
?/. - c.986A>G r.(?) p.(Tyr329Cys) Unknown - VUS g.81691938T>C g.81642787T>C - - GBE1_000001 Mochel et al. 2012. Ann Neurol 72: 433 - - rs80338671 Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
?/. - c.986A>G r.(?) p.(Tyr329Cys) Unknown - VUS g.81691938T>C - GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R) - GBE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.986A>G r.(?) p.(Tyr329Cys) Unknown - likely pathogenic g.81691938T>C - GBE1(NM_000158.3):c.985A>G (p.(Tyr329Cys)), GBE1(NM_000158.3):c.986A>G (p.Q329R) - GBE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.986A>G r.(?) p.(Tyr329Cys) Both (homozygous) - likely pathogenic g.81691938T>C g.81642787T>C NM_000158.3:c.986A>G; p.Tyr329Cys - GBE1_000001 - PubMed: Nair 2018 - rs80338671 Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing GSD4 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
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