Full data view for gene B3GLCT

NOTE: the name of this gene was recently changed from B3GALTL to B3GLCT.
Information The variants shown are described using the NM_194318.3 transcript reference sequence.

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/? 7i c.597-23del - r.(=) p.(=) Parent #1 g.31843328del g.31269191del - - B3GLCT_000014 - - - - Unknown - - - 0 - DNA SEQ - - ? - - found twice (identical sequence) dbSNP - - Netherlands - - 0 - - 1 Martine van Belzen
?/? 7i c.597-23del - r.(=) p.(=) Unknown g.31843328del g.31269191del - - B3GLCT_000014 rs35261337 - - rs3215787 Unknown - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
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