LOVD - Variant listings for B4GALT7

About this overview [Show]

Patient data (#0001861)
Patient ID
Disease -
Reference Arunrut et al., 2016
Template DNA
Technique WES
Remarks The patient had classic signs of linkeropathies, joint hyperextensibility, soft skin, scoliosis, developmental delays, but also had uncommon ocular findings of corneal clouding, cataracts and colobomas.
Ethnic origin -

Variant data
Allele Maternal (inferred)
Reported pathogenicity Pathogenic
Concluded pathogenicity Probably pathogenic
Exon 06
DNA change c.970T>A   (View in UCSC Genome Browser, Ensembl)
dbSNP -
Type Substitution
Mutation Effect Missense
Protein p.Cys324Ser
RNA change -
Re-site -
Frequency -
DB-ID B4GALT7_00008

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
+/+? Maternal (inferred) 06 c.970T>A - Substitution Missense p.Cys324Ser - - - B4GALT7_00008
+/+? Paternal (inferred) 06 c.970T>A - Substitution Missense p.Cys324Ser - - - B4GALT7_00008