All variants in the B3GALNT2 gene

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_152490.3 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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     
+/. 7 c.824_825dup r.(?) p.(Ile276Leufs*26) - pathogenic g.235628971_235628972dup g.235465654_235465655dup 822_823dup - B3GALNT2_000008 exome sequencing PubMed: Stevens 2013 - - Germline yes - - 0 - Johan den Dunnen
+/. 7 c.824_825dup r.(?) p.(Ile276Leufs*26) - pathogenic g.235628971_235628972dup g.235465654_235465655dup 822_823dup - B3GALNT2_000008 - PubMed: Stevens 2013 - - Unknown yes - - 0 - Johan den Dunnen
+?/. - c.824_825dup r.(?) p.(Ile276LeufsTer26) - likely pathogenic g.235628971_235628972dup g.235465654_235465655dup B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26) - TBCE_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.824_825dup r.(?) p.(Ile276LeufsTer26) - pathogenic g.235628971_235628972dup g.235465654_235465655dup B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26) - TBCE_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+/. - c.824_825dup r.(?) p.(Ile276LeufsTer26) - pathogenic g.235628971_235628972dup - B3GALNT2(NM_152490.4):c.824_825dupTT (p.I276Lfs*26), B3GALNT2(NM_152490.5):c.824_825dupTT (p.I276Lfs*26) - B3GALNT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
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