All variants in the GBE1 gene

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

4 entries on 1 page. Showing entries 1 - 4.
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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     
+/. - c.760A>G r.(?) p.(Thr254Ala) - pathogenic g.81695565T>C g.81646414T>C GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A) - GBE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.760A>G r.(?) p.(Thr254Ala) - VUS g.81695565T>C g.81646414T>C GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A) - GBE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+?/. - c.760A>G r.(?) p.(Thr254Ala) - likely pathogenic g.81695565T>C g.81646414T>C GBE1(NM_000158.3):c.760A>G (p.(Thr254Ala), p.T254A) - GBE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 6 c.760A>G r.(?) p.(Thr254Ala) - pathogenic (recessive) g.81695565T>C g.81646414T>C - - GBE1_000014 - - - - Germline - - - 0 - Jonathan De Winter
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