All variants in the B3GAT3 gene

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

2 entries on 1 page. Showing entries 1 - 2.
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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.909+270_909+271del r.(=) p.(=) - benign g.62383709_62383710del g.62616237_62616238del B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35) - B3GAT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.909+270_909+271del r.(=) p.(=) - likely benign g.62383709_62383710del g.62616237_62616238del B3GAT3(NM_001288723.1):c.914_915delAG (p.E305Vfs*35) - B3GAT3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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