LOVD - Variant listings for B3GALT6

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Patient data (#0001859)
Patient ID V-2
Disease ALGAZ
Reference Ben-Mahmoud et al., 2018
Template DNA
Technique PCR, SEQ
Remarks This family was previously described in Al-Gazali et al., 1999. The proband had two siblings V-1, and V-2, who carried the same variants and phenotype. The authors of Ben-Mahmoud et al., 2018 suggest that Al-Gazali syndrome represents the more severe phenotype among B3GALT6-related diseases due to patients dying within the first few months of life.
Ethnic origin Palestinian

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.618C>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Cys206Trp
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00039

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.618C>G - Substitution Missense p.Cys206Trp - - - B3GALT6_00039
+/+? Maternal (confirmed) 01 c.618C>G - Substitution Missense p.Cys206Trp - - - B3GALT6_00039