LOVD - Variant listings for B3GALT6

About this overview [Show]

Patient data (#0001877)
Patient ID Patient 7
Disease SEMDJL
Reference Ranza et al., 2017
Template DNA
Technique SEQ, WES
Remarks The patient initially had no clinical diagnosis, but was classified as having SEMDJL1 after molecular screening.
Ethnic origin -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity Probably pathogenic
Exon 01
DNA change c.845_846delinsTA   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Insertion/Deletion
Mutation Effect Missense
Protein p.Ser282Ile
RNA change -
Re-site -
Frequency -
DB-ID B3GALT6_00040

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 (inferred) 01 c.845_846delinsTA - Insertion/Deletion Missense p.Ser282Ile - - - B3GALT6_00040
+?/+? Paternal (inferred) 01 c.845_846delinsTA - Insertion/Deletion Missense p.Ser282Ile - - - B3GALT6_00040