All variants in the B3GAT3 gene

Information The variants shown are described using the NM_012200.3 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.1A>T r.(?) p.(Met1?) - pathogenic g.62389419T>A g.62621947T>A B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.3):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.1A>T r.(?) p.(Met1?) - likely pathogenic g.62389419T>A g.62621947T>A B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.3):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. - c.1A>T r.(?) p.(Met1?) - likely pathogenic g.62389419T>A - B3GAT3(NM_001288723.1):c.1A>T (p.M1?), B3GAT3(NM_012200.3):c.1A>T (p.M1?) - B3GAT3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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