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     
+/? 4 c.830G>A r.(?) p.(Arg277Gln) - pathogenic g.62384057C>T g.62616585C>T - - B3GAT3_000001 not in 1144 control chromosomes PubMed: Baasanjav 2011, OMIM:var0001 - - Germline yes - - 0 - Johan den Dunnen
+?/. - c.830G>A r.(?) p.(Arg277Gln) - likely pathogenic g.62384057C>T g.62616585C>T - - B3GAT3_000001 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs387906937 Germline - 1/2795 individuals - 0 - Mohammed Faruq
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