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.1492G>A r.(?) p.(Glu498Lys) - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_VUmc
?/. - c.1492G>A r.(?) p.(Glu498Lys) - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. - c.1492G>A r.(?) p.(Glu498Lys) - VUS g.81627202C>T g.81578051C>T GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1492G>A r.(?) p.(Glu498Lys) - VUS g.81627202C>T - GBE1(NM_000158.3):c.1492G>A (p.E498K, p.G498R) - GBE1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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