LOVD - Variant listings for B3GALT6

About this overview [Show]

Patient data (#0001857)
Patient ID IV-5
Disease SEMDJL
Reference Trejo et al., 2017
Template DNA
Technique SEQ
Remarks The proband also had two siblings who carried both variants in B3GALT6, and were positive for SEMDJL, with some clinical variability.
Ethnic origin -

Variant data
Allele Maternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.901_921dup   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Duplication
Mutation Effect Duplication
Protein p.Lys301_Arg307dup
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00035

2 entries in B3GALT6

Path.
Allele Descending
Ascending
Exon Descending
Ascending
DNA change Descending
Ascending
dbSNP Descending
Ascending
Type Descending
Ascending
Mutation Effect Descending
Ascending
Protein Descending
Ascending
RNA change Descending
Ascending
Re-site Descending
Ascending
Frequency Descending
Ascending
DB-ID Descending
Ascending
+?/+? Paternal (confirmed) 01 c.511C>T - Substitution Missense p.Arg171Cys - - - B3GALT6_00036
+?/+? Maternal (confirmed) 01 c.901_921dup - Duplication Duplication p.Lys301_Arg307dup - - - B3GALT6_00035