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.*2089dup r.(?) p.(=) - VUS g.62381092dup g.62613620dup ROM1(NM_000327.3):c.339dupG (p.L114Afs*18) - B3GAT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.*2089dup r.(?) p.(=) - pathogenic g.62381092dup g.62613620dup ROM1(NM_000327.3):c.339dupG (p.L114Afs*18) - B3GAT3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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