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.*1348C>T r.(=) p.(=) - likely benign g.62381825G>A g.62614353G>A ROM1(NM_000327.3):c.686G>A (p.R229H, p.(Arg229His)) - ROM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.*1348C>T r.(=) p.(=) - likely benign g.62381825G>A g.62614353G>A ROM1(NM_000327.3):c.686G>A (p.R229H, p.(Arg229His)) - ROM1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
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