All variants in the B3GAT3 gene

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

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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     
+/. 3 c.481C>T r.(?) p.(Arg161Trp) - likely pathogenic (recessive) g.62384596G>A g.62617124G>A - - B3GAT3_000009 - Ritelli et al., submitted 2019 - rs765246909 Germline - - - 0 - Marco Ritelli
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