LOVD - Variant listings for B3GALT6

About this overview [Show]

Patient data (#0001852)
Patient ID Family 2
Disease SEMDJL
Reference Honey et al., 2016
Template DNA
Technique Unknown
Remarks -
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.235A>G   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Thr79Ala
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00034

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
+/+? Maternal (confirmed) 01 c.200C>T - Substitution Missense p.Pro67Leu - - - B3GALT6_00033
+/+? Paternal (confirmed) 01 c.235A>G - Substitution Missense p.Thr79Ala - - - B3GALT6_00034