LOVD - Variant listings for B4GALT7

About this overview [Show]

Patient data (#0001904)
Patient ID Patient 24
Disease Intellectual disability
Reference Wang et al., 2020
Template DNA
Technique CNGP, WGS
Remarks The variants were detected by medical exome sequencing of 95 patients with clinical manifestations of intellectual disability.
Ethnic origin -

Variant data
Allele Paternal (confirmed)
Reported pathogenicity Probably pathogenic
Concluded pathogenicity No known pathogenicity
Exon 02
DNA change c.319G>C   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Glu107Gln
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00012

2 entries in B4GALT7

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) 02 c.319G>C - Substitution Missense p.Glu107Gln - - - B4GALT7_00012
-/- Maternal (confirmed) 03 c.614T>C - Substitution Missense p.Leu205Pro - - - B4GALT7_00013