All variants in the GBE1 gene

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     

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     

Owner     
+/. 7 c.986A>G r.(?) p.(Tyr329Cys) - pathogenic g.81691938T>C g.81642787T>C - - GBE1_000001 - - - - Germline - - - 0 - Claire Guissart
+/. - c.986A>G r.(?) p.(Tyr329Cys) - 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 - 0 - Mohammed Faruq
?/. - c.986A>G r.(?) p.(Tyr329Cys) - VUS g.81691938T>C g.81642787T>C - - GBE1_000001 Mochel et al. 2012. Ann Neurol 72: 433 - - rs80338671 Germline - - - 0 - Andreas Laner
?/. - c.986A>G r.(?) p.(Tyr329Cys) - 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 - - - - - VKGL-NL_Rotterdam
+?/. - c.986A>G r.(?) p.(Tyr329Cys) - 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 - - - - - VKGL-NL_Leiden
+?/. - c.986A>G r.(?) p.(Tyr329Cys) - likely pathogenic g.81691938T>C g.81642787T>C NM_000158.3:c.986A>G; p.Tyr329Cys - GBE1_000001 - PubMed: Nair 2018 - rs80338671 Unknown ? - - 0 - LOVD
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